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...

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Detalles Bibliográficos
Autores principales: Doğan, Özlem Akgün, Şimşek Kiper, Pelin Özlem, Utine, Gülen Eda, Alikaşifoğlu, Mehmet, Boduroğlu, Koray
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Family Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5371580/
https://www.ncbi.nlm.nih.gov/pubmed/28360987
http://dx.doi.org/10.4082/kjfm.2017.38.2.102

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5371580/
https://www.ncbi.nlm.nih.gov/pubmed/28360987
http://dx.doi.org/10.4082/kjfm.2017.38.2.102

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