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Molecular Syndromology 2019, Vol. 10, No. 5
Editorial - Late Breaking Chromosomes
Mutations in Mediator Complex Genes CDK8, MED12, MED13, and MEDL13 Mediate Overlapping Developmental Syndromes
Mol Syndromol (2019) 10 (5): 239–242.
https://doi.org/10.1159/000502346
Review Article
Nonsyndromic Split-Hand/Foot Malformation: Recent Classification
Mol Syndromol (2019) 10 (5): 243–254.
https://doi.org/10.1159/000502784
Original Article
Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome
Maria E. Gomes; Luiza Calatrava Paternostro; Valéria R. Moura; Deborah Antunes; Ernesto R. Caffarena; Dafne Horovitz; Maria T. Sanseverino; Gabriela Ferraz Leal; Têmis M. Felix; Denise Pontes Cavalcanti; Juan Clinton Llerena Jr.; Sayonara Gonzalez
Mol Syndromol (2019) 10 (5): 255–263.
https://doi.org/10.1159/000501892
Short Report
Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins
Tatiana Mozer Joaquim; Carlos H. Paiva Grangeiro; Flávia Gaona de Oliveira Gennaro; Alexandra Galvão Gomes; Jeremy A. Squire; Lucia R. Martelli
Mol Syndromol (2019) 10 (5): 264–271.
https://doi.org/10.1159/000501923
A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients
Mol Syndromol (2019) 10 (5): 272–275.
https://doi.org/10.1159/000502597
Multiple Congenital Anomalies in a Patient with Interstitial 6q26 Deletion
Mol Syndromol (2019) 10 (5): 276–280.
https://doi.org/10.1159/000503698
Novel Insights from Clinical Practice
A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants
Mol Syndromol (2019) 10 (5): 281–285.
https://doi.org/10.1159/000502601
A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth
Mol Syndromol (2019) 10 (5): 286–290.
https://doi.org/10.1159/000501376
