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Issues

Volume 10, Issue 4
July 2019
Molecular Syndromology Cover Image for Volume 10, Issue 4
All Issues
ISSN 1661-8769
EISSN 1661-8777

Molecular Syndromology 2019, Vol. 10, No. 4

Editorial - Late Breaking Chromosomes

Concurrent Structural and Single Nucleotide Variation Resulting from a Single Replication-Based Mechanism
Martin Poot
Mol Syndromol (2019) 10 (4): 183–185. https://doi.org/10.1159/000501382
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Original Article

GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature
Milana Trubnykova; Jeny Bazalar Montoya; Jorge La Serna-Infantes; Flor Vásquez Sotomayor; María del Carmen Castro Mujica; Hugo Hernán Abarca Barriga
Mol Syndromol (2019) 10 (4): 186–194. https://doi.org/10.1159/000499209
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Novel HIVEP2 Variants in Patients with Intellectual Disability
Joohyun Park; Roberto Colombo; Karin Schäferhoff; Luigi Janiri; Mona Grimmel; Marc Sturm; Ute Grasshoff; Andreas Dufke; Tobias B. Haack; Martin Kehrer
Mol Syndromol (2019) 10 (4): 195–201. https://doi.org/10.1159/000499060
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Short Report

Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions
Marcela D. Hanna; Patricia N. Moretti; Claudiner P. de Oliveira; Maria T. A. Rosa; Beatriz R. Versiani; Silviene F. de Oliveira; Aline Pic-Taylor; Juliana F. Mazzeu
Mol Syndromol (2019) 10 (4): 202–208. https://doi.org/10.1159/000501008
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Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing
Linda Pons; Patrice Bouvagnet; Mohamed Bakloul; Sylvie Di Filippo; Adrien Buisson; Nicolas Chatron; Audrey Labalme; Olivier Metton; Julia Mitchell; Flavie Diguet; Pierre-Antoine Rollat-Farnier; Damien Sanlaville; Caroline Schluth-Bolard
Mol Syndromol (2019) 10 (4): 209–213. https://doi.org/10.1159/000500215
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Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome
Lélia L. Gonçalves Ramos; Irene Plaza Pinto; Rajib Deb; Cristiano L. Ribeiro; Damiana Mírian da Cruz e Cunha; Lysa Bernardes Minasi; Antonio M.T. Cordeiro Silva; Aparecido D. da Cruz
Mol Syndromol (2019) 10 (4): 214–218. https://doi.org/10.1159/000500005
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Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation
Pratibha Nair; Sandra Sabbagh; Sami Bizzari; Florian Brunner; Samantha Stora; Mahmoud T. Al-Ali; Martin Gencik; Stephany El-Hayek; André Mégarbané
Mol Syndromol (2019) 10 (4): 219–222. https://doi.org/10.1159/000501114
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Novel Insights from Clinical Practice

Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome
Ulrike Bernstein; Stephanie Demuth; Oliver Puk; Birgit Eichhorn; Solveig Schulz
Mol Syndromol (2019) 10 (4): 223–228. https://doi.org/10.1159/000501183
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Torpedo Maculopathy Associated with NEXMIF Mutation
Tuğba Alarcon-Martinez; Ayesha Khan; Kenneth A. Myers
Mol Syndromol (2019) 10 (4): 229–233. https://doi.org/10.1159/000498835
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A Balanced Reciprocal Translocation t(2;9)(p25;q13) Disrupting the LINC00299 Gene in a Patient with Intellectual Disability
Halinna Dornelles-Wawruk; Romina Soledad Heredia; Milton R. de Paula-Junior; Maria Terezinha O. Cardoso; Raphael S. Bonadio; Bianca F. dos Reis; Aline Pic-Taylor; Silviene F. de Oliveira; Juliana F. Mazzeu
Mol Syndromol (2019) 10 (4): 234–238. https://doi.org/10.1159/000500397
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Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynosytosis, Ectrodactyly and Skeletal Anomaly (DECES) Spectrum
First Reported Co-occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review
Genetic analysis strategy for diagnosing congenital heart disease
A rare case of Bardet-Biedl syndrome caused by a heterozygous point variant in BBS7 and a CNV involved BBS7
  • Online ISSN 1661-8777
  • Print ISSN 1661-8769
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