7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance

Split hand-split food malformation (SHFM) is a congenital defect of limb development that involves the central rays of the autopod and presents with median clefts of the hands and feet. It often includes syndactyly and aplasia/hypoplasia of the phalanges. SHFM is a genetic condition with high geneti...

Descripción completa

Detalles Bibliográficos
Autores principales: Delgado, Sara, Velinov, Milen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4465478/
https://www.ncbi.nlm.nih.gov/pubmed/26075025
http://dx.doi.org/10.1186/s13039-015-0139-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4465478/
https://www.ncbi.nlm.nih.gov/pubmed/26075025
http://dx.doi.org/10.1186/s13039-015-0139-2

Ejemplares similares