Chargement en cours...

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome

Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, includi...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Korean J Fam Med
Auteurs principaux: Doğan, Özlem Akgün, Şimşek Kiper, Pelin Özlem, Utine, Gülen Eda, Alikaşifoğlu, Mehmet, Boduroğlu, Koray
Format: Artigo
Langue:Inglês
Publié: The Korean Academy of Family Medicine 2017
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5371580/
https://ncbi.nlm.nih.gov/pubmed/28360987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4082/kjfm.2017.38.2.102
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!