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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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| Publicado no: | Korean J Fam Med |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Korean Academy of Family Medicine
2017
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| Assuntos: | |
| Acesso em linha: | 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 |
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