Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2-Reference-Cited by-同舟云学术

Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

Published:2018 Issue:3 Volume:9 Page:164-169
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Miranda-Fernández Marta-Catalina,Ramírez-Oyaga Silvia,Restrepo Carlos M.,Huertas-Quiñones Victor-Manuel,Barrera-Castañeda Magally,Quero Rossi,Hernández-Toro Camilo-José,Tamar Silva Claudia,Laissue Paul,Cabrera Rodrigo

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics

Reference24 articles.

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2. Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, et al: In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet 91:950-957 (2012).

3. Cunnington RH, Northcott JM, Ghavami S, Filomeno KL, Jahan F, et al: The Ski-Zeb2-Meox2 pathway provides a novel mechanism for regulation of the cardiac myofibroblast phenotype. J Cell Sci 127:40-49 (2014).

4. Digilio MC, Bernardini L, Lepri F, Giuffrida MG, Guida V, et al: Ebstein anomaly: genetic heterogeneity and association with microdeletions 1p36 and 8p23.1. Am J Med Genet Part A 155A:2196-2202 (2011).

5. Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, et al: Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet 44:1249-1254 (2013).

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