Severe Developmental Delay in a Patient with 7p21.1–p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster

We describe a patient with a rare interstitial deletion of chromosome 7p21.1–p14.3 detected by array-CGH. The deletion encompassed 74 genes and caused haploinsufficiency (or loss of allele) of 6 genes known to be implicated in different autosomal dominant genetic disorders: TWIST, DFNA5, CYCS, HOXA1...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Fryssira, H., Makrythanasis, P., Kattamis, A., Stokidis, K., Menten, B., Kosaki, K., Willems, P., Kanavakis, E.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2011
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3343762/
https://ncbi.nlm.nih.gov/pubmed/22570644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000334313
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados