Cargando…
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...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Academy of Family Medicine
2017
|
| Materias: | |
| 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 |