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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:J Endocr Soc
Main Authors: Jee, Youn Hee, Whalen, Philip, Yue, Shanna, Leschek, Ellen, Markello, Thomas, Barnes, Kevin, Lui, Julian, Baron, Jeffrey
Format: Artigo
Sprog:Inglês
Udgivet: Endocrine Society 2019
Fag:
Pediatric Endocrinology
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552090/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SAT-283
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker