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Issues

Volume 4, Issue 3
March 2013
Molecular Syndromology Cover Image for Volume 4, Issue 3
All Issues
ISSN 1661-8769
EISSN 1661-8777
In this Issue

Molecular Syndromology 2013, Vol. 4, No. 3

Original Article

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations
M. Alders; A. Mendola; L. Adès; L. Al Gazali; C. Bellini; B. Dallapiccola; P. Edery; U. Frank; F. Hornshuh; S.A. Huisman; S. Jagadeesh; H. Kayserili; W.T. Keng; D. Lev; C.E. Prada; J.R. Sampson; J. Schmidtke; V. Shashi; Y. van Bever; N. Van der Aa; J.M. Verhagen; J.B. Verheij; M. Vikkula; R.C. Hennekam
Mol Syndromol (2013) 4 (3): 107–113. https://doi.org/10.1159/000342486
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X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome
C.T. Sullivan; S.L. Christian; J.T.C. Shieh; D. Metry; F. Blei; A. Krol; B.A. Drolet; I.J. Frieden; W.B. Dobyns; D.H. Siegel
Mol Syndromol (2013) 4 (3): 114–118. https://doi.org/10.1159/000343489
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Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism
Laura Boeri; Orietta Radi; Cecilia Canzonieri; Elisabetta Buscarini; Agnese Scatigno; Antonella Minelli; Federica Ornati; Fabio Pagella; Cesare Danesino; Carla Olivieri
Mol Syndromol (2013) 4 (3): 119–124. https://doi.org/10.1159/000347029
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The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations
K.J. Potter; S. Creighton; L. Armstrong; P. Eydoux; W. Duncan; D.J. Penny; Y. Fan; W.T. Gibson
Mol Syndromol (2013) 4 (3): 125–135. https://doi.org/10.1159/000347163
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Report on a Patient with a 12q24.31 Microdeletion Inherited from an Insulin-Dependent Diabetes Mellitus Father
Topic Article Package: Topic Article Package: Diabetes
E. Chouery; N. Choucair; J. Abou Ghoch; S. El Sabbagh; S. Corbani; A. Mégarbané
Mol Syndromol (2013) 4 (3): 136–142. https://doi.org/10.1159/000346473
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Case Report

A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome
L.M. Delgado; M. Gutierrez; B. Augello; C. Fusco; L. Micale; G. Merla; E.A. Pastene
Mol Syndromol (2013) 4 (3): 143–147. https://doi.org/10.1159/000347167
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COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type
S. Matsubayashi; M. Ikema; Y. Ninomiya; K. Yamaguchi; S. Ikegawa; G. Nishimura
Mol Syndromol (2013) 4 (3): 148–151. https://doi.org/10.1159/000346644
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Short Report

Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation
I. Ratbi; N. Fejjal; L. Micale; B. Augello; C. Fusco; J. Lyahyai; G. Merla; A. Sefiani
Mol Syndromol (2013) 4 (3): 152–156. https://doi.org/10.1159/000346798
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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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