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Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome

BACKGROUND: Short stature can be caused by mutations in a multitude of different genes. 3-M syndrome is a rare growth disorder marked by severe pre- and postnatal growth retardation along with subtle dysmorphic features. There have only been 2 prior reports of mutations in CCDC8 causing 3-M syndrome...

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Detalhes bibliográficos
Publicado no:Horm Res Paediatr
Main Authors: Liao, Lihong, Gan, Hoong-Wei, Hwa, Vivian, Dattani, Mehul, Dauber, Andrew
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7261367/
https://ncbi.nlm.nih.gov/pubmed/28675896
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000477907
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