Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation

BACKGROUND: Split hand/foot malformation (SHFM) is a congenital disorder characterized by a cleft of the hands and/or feet due to dificiency of central rays. Genomic rearrangement at 10q24 has been found to cause nonsyndromic SHFM (SHFM3). METHODS: Four patients and fourteen unaffected individuals f...

Descripción completa

Detalles Bibliográficos
Autores principales: Dai, Li, Deng, Ying, Li, Nana, Xie, Liang, Mao, Meng, Zhu, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637097/
https://www.ncbi.nlm.nih.gov/pubmed/23596994
http://dx.doi.org/10.1186/1471-2350-14-45

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637097/
https://www.ncbi.nlm.nih.gov/pubmed/23596994
http://dx.doi.org/10.1186/1471-2350-14-45

Ejemplares similares