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Volume 8, Issue 6
November 2017
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ISSN 1661-8769
EISSN 1661-8777

Molecular Syndromology 2017, Vol. 8, No. 6

Editorial - Late Breaking Chromosomes

Neocentromeres to the Rescue of Acentric Chromosome Fragments
Martin Poot
Mol Syndromol (2017) 8 (6): 279–281. https://doi.org/10.1159/000481332
View articletitled, Neocentromeres to the Rescue of Acentric Chromosome Fragments
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Original Article

Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening
Francesca Cristofoli; Bart De Keersmaecker; Luc De Catte; Joris R. Vermeesch; Hilde Van Esch
Mol Syndromol (2017) 8 (6): 282–293. https://doi.org/10.1159/000479666
View articletitled, Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening
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Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease
Giampiero I. Baroncelli; Elena Ferretti; Cecilia M. Pini; Benedetta Toschi; Rita Consolini; Silvano Bertelloni
Mol Syndromol (2017) 8 (6): 294–302. https://doi.org/10.1159/000479859
View articletitled, Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease
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Short Report

Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations
Pamela Trejo; Frank Rauch; Francis H. Glorieux; Jean Ouellet; Thierry Benaroch; Philippe M. Campeau
Mol Syndromol (2017) 8 (6): 303–307. https://doi.org/10.1159/000479672
View articletitled, Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations
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Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome
Mary García-Acero; Johanna Acosta
Mol Syndromol (2017) 8 (6): 308–312. https://doi.org/10.1159/000479357
View articletitled, Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome
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Novel Insights from Clinical Practice

A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders
Mitesh Shetty; Nimmy Ramdas; Shubhi Sahni; Nandita Mullapudi; Sridevi Hegde
Mol Syndromol (2017) 8 (6): 313–317. https://doi.org/10.1159/000479673
View articletitled, A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders
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A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia
Seval Türkmen; Malte Spielmann; Nilay Güneş; Alexej Knaus; Ricarda Flöttmann; Stefan Mundlos; Beyhan Tüysüz
Mol Syndromol (2017) 8 (6): 318–324. https://doi.org/10.1159/000479721
View articletitled, A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia
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Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1
Nicolas Chatron; Lucie Thibault; James Lespinasse; Audrey Labalme; Caroline Schluth-Bolard; Marianne Till; Patrick Edery; Renaud Touraine; Vincent des Portes; Gaetan Lesca; Damien Sanlaville
Mol Syndromol (2017) 8 (6): 325–330. https://doi.org/10.1159/000479455
View articletitled, Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1
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Contents Vol. 8, 2017
Mol Syndromol (2017) 8 (6): I–IV. https://doi.org/10.1159/000484153
View articletitled, Contents Vol. 8, 2017
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Influence of the IDOL Gene Variants on Low-Density Lipoprotein Cholesterol Levels in Turkish Patients with Familial Hypercholesterolemia
Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis
A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review
Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders
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