CtIP Mutations Cause Seckel and Jawad Syndromes

Seckel syndrome is a recessively inherited dwarfism disorder characterized by microcephaly and a unique head profile. Genetically, it constitutes a heterogeneous condition, with several loci mapped (SCKL1-5) but only three disease genes identified: the ATR, CENPJ, and CEP152 genes that control cellu...

Descripción completa

Detalles Bibliográficos
Autores principales: Qvist, Per, Huertas, Pablo, Jimeno, Sonia, Nyegaard, Mette, Hassan, Muhammad J., Jackson, Stephen P., Børglum, Anders D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3188555/
https://www.ncbi.nlm.nih.gov/pubmed/21998596
http://dx.doi.org/10.1371/journal.pgen.1002310

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3188555/
https://www.ncbi.nlm.nih.gov/pubmed/21998596
http://dx.doi.org/10.1371/journal.pgen.1002310

Ejemplares similares