Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

Smith-Magenis syndrome (SMS) is a complex syndrome involving intellectual disabilities, sleep disturbance, behavioural problems, and a variety of craniofacial, skeletal, and visceral anomalies. While the majority of SMS cases harbor an ~3.5 Mb common deletion on 17p11.2 that encompasses the retinoic...

Descripción completa

Detalles Bibliográficos
Autores principales: Truong, Hoa T, Dudding, Tracy, Blanchard, Christopher L, Elsea, Sarah H
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964533/
https://www.ncbi.nlm.nih.gov/pubmed/20932317
http://dx.doi.org/10.1186/1471-2350-11-142

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964533/
https://www.ncbi.nlm.nih.gov/pubmed/20932317
http://dx.doi.org/10.1186/1471-2350-11-142

Ejemplares similares