A carregar...

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

BACKGROUND: Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. Lenz microphthalmia is a syndromic form that is typically inherited in an X-linked pattern, though the causative gene mutation is unknown. Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, a...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Bardakjian, Tanya M, Schneider, Adele S, Ng, David, Johnston, Jennifer J, Biesecker, Leslie G
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2806267/
https://ncbi.nlm.nih.gov/pubmed/20003547
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-10-137
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!