SAT-283 A Mutation In Ccdc53 Affects Pth1r Trafficking And Causes Disproportionate Short Stature With Noonan-like Facies

In many children with short stature, the genetic etiology remains unknown. Short stature due to defects in trafficking of membrane-associated proteins, such as receptors, has not been reported. A mother and two daughters presented with disproportionate short stature and Noonan-like facies. Exome seq...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Jee, Youn Hee, Whalen, Philip, Yue, Shanna, Leschek, Ellen, Markello, Thomas, Barnes, Kevin, Lui, Julian, Baron, Jeffrey
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
Assuntos:
Pediatric Endocrinology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552090/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SAT-283
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