Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation

The human chromosome 22q11.2 region is susceptible to rearrangements during meiosis leading to velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome (22q11DS) characterized by conotruncal heart defects (CTDs) and other congenital anomalies. The majority of individuals have a 3 Mb deletion whose prox...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Racedo, Silvia E., McDonald-McGinn, Donna M., Chung, Jonathan H., Goldmuntz, Elizabeth, Zackai, Elaine, Emanuel, Beverly S., Zhou, Bin, Funke, Birgit, Morrow, Bernice E.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4320261/
https://ncbi.nlm.nih.gov/pubmed/25658046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.12.025
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