A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient

Greig cephalopolysyndactyly (GCPS) syndrome is an autosomal dominant disorder with high penetrance in majority of cases, characterized by a triad of polysyndactyly, macrocephaly and hypertelorism. GCPS is known to be caused by mutations in the transcription factor GLI3 gene (7p13) which results in f...

Descripción completa

Detalles Bibliográficos
Autores principales: Patel, Rashmi, Tripathi, Fanish Mani, Singh, Subodh Kumar, Rani, Anjali, Bhattacharya, Visweswar, Ali, Akhtar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297881/
https://www.ncbi.nlm.nih.gov/pubmed/25606469
http://dx.doi.org/10.1016/j.mgene.2014.11.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297881/
https://www.ncbi.nlm.nih.gov/pubmed/25606469
http://dx.doi.org/10.1016/j.mgene.2014.11.002

Ejemplares similares