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Volume 10, Issue 3
May 2019
Molecular Syndromology Cover Image for Volume 10, Issue 3
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ISSN 1661-8769
EISSN 1661-8777

Molecular Syndromology 2019, Vol. 10, No. 3

Editorial - Late Breaking Chromosomes

Phenotypic Spectrum and Severity of Disease Depending on the Mutated Protein Domain of NMDA Receptor-Encoding Genes
Martin Poot
Mol Syndromol (2019) 10 (3): 127–129. https://doi.org/10.1159/000500004
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Original Article

Novel Mutations and Unreported Clinical Features in KBG Syndrome
Emanuela Scarano; Martina Tassone; Claudio Graziano; Dino Gibertoni; Federica Tamburrino; Annamaria Perri; Maria Gnazzo; Giulia Severi; Francesca Lepri; Laura Mazzanti
Mol Syndromol (2019) 10 (3): 130–138. https://doi.org/10.1159/000496172
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Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype
Fernanda T. Bellucco; Hélio Rodrigues de Oliveira-Júnior; Roberta Santos Guilherme; Silvia Bragagnolo; Ana B. Alvarez Perez; Vera Ayres Meloni; Maria I. Melaragno
Mol Syndromol (2019) 10 (3): 139–146. https://doi.org/10.1159/000497402
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Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature
Veronica Bertini; Angelo Valetto; Fulvia Baldinotti; Alessia Azzarà; Francesca Cambi; Benedetta Toschi; Alessandro Giacomina; Gian L. Gatti; Simone Gana; Maria A. Caligo; Silvano Bertelloni
Mol Syndromol (2019) 10 (3): 147–153. https://doi.org/10.1159/000497092
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Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant
Eden Faye; Peggy Modaff; Richard Pauli; Janet Legare
Mol Syndromol (2019) 10 (3): 154–160. https://doi.org/10.1159/000495778
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Novel Insights from Clinical Practice

1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum
Akella Radha Rama Devi; Aparna Ganapathy; Ashraf U. Mannan; Shefali Sabharanjak; Shaik M. Naushad
Mol Syndromol (2019) 10 (3): 161–166. https://doi.org/10.1159/000496079
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A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1
Francisco Cammarata-Scalisi; Uta Matysiak; Tanja Velten; Michele Callea; Dianora Araque; Colin E. Willoughby; Angela Galeotti; Andrea Avendaño
Mol Syndromol (2019) 10 (3): 167–170. https://doi.org/10.1159/000496553
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Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON
Hanadi A. Abdelrahman; Anne John; Bassam R. Ali; Lihadh Al-Gazali
Mol Syndromol (2019) 10 (3): 171–176. https://doi.org/10.1159/000497337
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Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned
Karthik Tallapaka; Shagun Aggarwal; Amrita Bhattacherjee; Aneek Das Bhowmik; Ashwin Dalal
Mol Syndromol (2019) 10 (3): 177–182. https://doi.org/10.1159/000496280
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A novel HECW2 variant (c.4354G>A; p. Gly1452Ser) in Chinese patient with developmental delay, neurodevelopmental delay and hypotonia
5-Oxoprolinase deficiency and epilepsy: report of four cases with new clinical findings and clinical diversity even in the same family
A novel GATAD2B frameshift variant causes GATAD2B-associated neurodevelopmental disorder with camptodactyly
Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: Report of Two Cases and Literature Review
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