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Case Reports October 27 2023

Coexistence of Two Rare Conditions Complicating the Other’s Management: Propionic Acidemia and Apert Syndrome

Cansu Kethuda Ensert Cihan; Halil Tuna Akar; Yılmaz Yıldız; Merve Sogukpinar; Gulen Eda Utine; Hasan Tolga Çelik

Mol Syndromol (2023) https://doi.org/10.1159/000534380

View articletitled, Coexistence of Two Rare Conditions Complicating the Other’s Management: Propionic Acidemia and Apert Syndrome

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Research Articles October 20 2023

Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study

Zeynep Selcan Şanli; Özlem Anlaş

Mol Syndromol (2023) https://doi.org/10.1159/000534243

View articletitled, Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study

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Research Articles October 16 2023

TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2

Nahid Vafaei; Ali Mohebbi; Zahra Rezaei; Morteza Heidari; Sareh Hosseinpour; Ali Zare Dehnavi; Azin Ghamari; Masoud Salehipour; Ali Rabbani; Nejat Mahdieh; Mahmoud Reza Ashrafi

Mol Syndromol (2023) https://doi.org/10.1159/000534100

View articletitled, TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2

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Research Articles October 16 2023

Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders

Hamide Betul Gerik-Celebi; Gul Unsel-Bolat; Hilmi Bolat

Mol Syndromol (2023) https://doi.org/10.1159/000534123

View articletitled, Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders

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Research Articles October 16 2023

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome

Cüneyd Yavaş; Nehir Ozdemir Ozgenturk; Mustafa Dogan; Alper Gezdirici; Ece Keskin; Ezgi Gokpınar İli; Tunay Dogan; Evrim Celebi; Onur Bender; Cemal Un

Mol Syndromol (2023) https://doi.org/10.1159/000533915

View articletitled, A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome

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Research Articles October 16 2023

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels

Gamze Sarıkaya Uzan; Ceren Yılmaz Uzman; Tayfun Çinleti; Çağatay Günay; Ayfer Ülgenalp; Semra Hiz Kurul; Uluç Yiş

Mol Syndromol (2023) https://doi.org/10.1159/000533976

View articletitled, Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels

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Corrections/Errata October 12 2023

Erratum - Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society

Mol Syndromol (2023) https://doi.org/10.1159/000534309

View articletitled, Erratum - Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society

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Case Reports October 2 2023

A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate

Aysenur Kardas Yildiz; Ali Bulbul; Buse Ozer Bekmez; Ayberk Turkyilmaz; Kerem Terali; Aydilek Dagdeviren Cakir; Ahmet Ucar

Mol Syndromol (2023) https://doi.org/10.1159/000533986

View articletitled, A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate

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Research Articles September 29 2023

Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis

Karam Yahya Belmokhtar; Imane Cherkaoui; Saida Lhousni; Mounia Elidrissi Errahhali; Manal Elidrissi Errahhali; Majida Charif; Redouane Boulouiz; Meryem Ouarzane; Aziza Elouali; Ayad Ghanam; Abdeladim Babakhouya; Maria Rkain; Noufissa Benajiba; Mohammed Bellaoui

Mol Syndromol (2023) https://doi.org/10.1159/000533894

View articletitled, Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis

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Case Reports September 28 2023

Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene

Yasemin Kendir-Demirkol; Burcu Yeter; Laura A. Jenny

Mol Syndromol (2023) https://doi.org/10.1159/000533733

View articletitled, Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene

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Case Reports September 18 2023

Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement

Yong Wu; Chuanning Liao; Yamei Xie; Lingxi Wang

Mol Syndromol (2023) https://doi.org/10.1159/000531769

View articletitled, Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement

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Research Articles September 13 2023

Analysis of Dopamine Receptor D2 Gene Polymorphism and Correlation with Dyslipidemia in the Chinese Population

Haibo Tan; Zhixue Wang; Jiaxuan Zhang; Maohua Huang; Jide Chen; Fengqi Li; Liangjun Tang

Mol Syndromol (2023) https://doi.org/10.1159/000533637

View articletitled, Analysis of Dopamine Receptor D2 Gene Polymorphism and Correlation with Dyslipidemia in the Chinese Population

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Case Reports September 8 2023

Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature

Margherita Baga; Ivan Ivanovski; Gianluca Contrò; Stefano Giuseppe Caraffi; Carlotta Spagnoli; Carlo Alberto Cesaroni; Alberto Neri; Francesca Peluso; Marzia Pollazzon; Livia Garavelli; Carlo Fusco

Mol Syndromol (2023) https://doi.org/10.1159/000530410

View articletitled, Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature

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Case Reports August 22 2023

Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report

Lucas Augusto Hauschild; Taciana Seixas Maia da Silva; Pablo Brea Winckler; Laércio Moreira Cardoso-Júnior; Jonas Alex Morales Saute; Karina Carvalho Donis

Mol Syndromol (2023) https://doi.org/10.1159/000533219

View articletitled, Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report

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Commentaries August 18 2023

Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease

Burcu Civelek Ürey; Ahmet Cevdet Ceylan; Büşranur Cavdarlı; Ayşegül Neşe Çıtak Kurt; Oya Kıreker Köylü; Burak Yürek; Çiğdem Seher Kasapkara

Mol Syndromol (2023) https://doi.org/10.1159/000531668

View articletitled, Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease

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Case Reports August 18 2023

A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene

Jorge Román Corona-Rivera; Izabel Maryalexandra Rios-Flores; Juan Carlos Zenteno; Christian Peña-Padilla; Katia Castillo-Reyes; Lucina Bobadilla-Morales; Alfredo Corona-Rivera; Elizabeth Acosta-Fernández; Alejandro Bruckman-Jiménez

Mol Syndromol (2023) https://doi.org/10.1159/000531934

View articletitled, A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene

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Case Reports August 14 2023

Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability

Karima Rafat; Mohamed S. Abdel-Hamid; Ghada M.H. Abdel-Salam

Mol Syndromol (2023) https://doi.org/10.1159/000531715

View articletitled, Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability

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Case Reports August 10 2023

Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome

Faranak Roudbari; Amir-Reza Dallal Amandi; Mortaza Bonyadi; Leyla Sadeghi; Neda Jabbarpour

Mol Syndromol (2023) https://doi.org/10.1159/000531566

View articletitled, Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome

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Research Articles August 7 2023

TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature

Eyyup Uctepe; Ahmet Yesilyurt; Fatma Nisa Esen; Sait Tümer; Hanifenur Mancılar; Fatma Mujgan Sonmez

Mol Syndromol (2023) https://doi.org/10.1159/000531439

View articletitled, TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature

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Case Reports August 7 2023

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child

Hatice Ceren Eser; Durdugul Ayyildiz Emecen; Ezgi Topyildiz; Esra Isik; Neslihan Edeer Karaca; Tahir Atik; Guzide Aksu; Ferda Ozkinay; Necil Kutukculer

Mol Syndromol (2023) https://doi.org/10.1159/000531408

View articletitled, Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child

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Case Reports August 4 2023

Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature

Sinem Kocagil; İkbal Nur Şafak; Elif Saraç; Can Aydın; Sevilhan Artan; Birgül Kırel

Mol Syndromol (2023) https://doi.org/10.1159/000531429

View articletitled, Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature

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Research Articles July 7 2023

Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review

Aida Ghasemi; Zahra Sadr; Mojgan Babanejad; Mohammad Rohani; Afagh Alavi

Mol Syndromol (2023) https://doi.org/10.1159/000531507

View articletitled, Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review

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Commentaries July 3 2023

SDHA Variants Can Only Be Classified as Causative Once Their Pathogenicity Has Been Proven

JOSEF FINSTERER

Mol Syndromol (2023) https://doi.org/10.1159/000531506

View articletitled, SDHA Variants Can Only Be Classified as Causative Once Their Pathogenicity Has Been Proven

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Research Articles June 26 2023

Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia

Naoto Sugeno; Takafumi Hasegawa; Kazuhiro Haginoya; Takafumi Kubota; Kensuke Ikeda; Takaaki Nakamura; Shun Ishiyama; Kazuki Sato; Shun Yoshida; Eriko Koshimizu; Mitsugu Uematsu; Satoko Miyatake; Naomichi Matsumoto; Masashi Aoki

Mol Syndromol (2023) https://doi.org/10.1159/000530625

View articletitled, Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia

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Research Articles June 20 2023

Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation

Muhammad Bilal; Tobias B. Haack; Rebecca Buchert; Susana Peralta; Imtiaz Ahmad; Faisal; Sanaullah Abbasi; Wasim Ahmad

Mol Syndromol (2023) https://doi.org/10.1159/000531069

View articletitled, Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation

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Case Reports June 7 2023

A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene

Tuna Eren Esen; Özlem Ünal Uzun; Ahmet Cevdet Ceylan

Mol Syndromol (2023) https://doi.org/10.1159/000530798

View articletitled, A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene

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Case Reports May 26 2023

A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient

Drenushe Zhuri; Fulya Dusenkalkan; Guzin Tunca Alparslan; Hakan Gurkan

Mol Syndromol (2023) https://doi.org/10.1159/000530585

View articletitled, A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient

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Case Reports May 12 2023

Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review

Carlo Alberto Cesaroni; Carlotta Spagnoli; Margherita Baga; Susanna Rizzi; Daniele Frattini; Stefano Giuseppe Caraffi; Marzia Pollazzon; Livia Garavelli; Carlo Fusco

Mol Syndromol (2023) https://doi.org/10.1159/000530586

View articletitled, Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review

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Online First / Early View

Online First

Coexistence of Two Rare Conditions Complicating the Other’s Management: Propionic Acidemia and Apert Syndrome

Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study

TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2

Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels

Erratum - Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society

A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate

Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis

Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene

Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement

Analysis of Dopamine Receptor D2 Gene Polymorphism and Correlation with Dyslipidemia in the Chinese Population

Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature

Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report

Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease

A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene

Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability

Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome

TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child

Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature

Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review

SDHA Variants Can Only Be Classified as Causative Once Their Pathogenicity Has Been Proven

Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia

Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation

A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene

A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient

Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review

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