Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9

SOX9 haploinsufficiency underlies campomelic dysplasia (CD) with or without testicular dysgenesis. Current understanding of the phenotypic variability and mutation spectrum of SOX9 abnormalities remains fragmentary. Here, we report three patients with hitherto unreported SOX9 abnormalities. These pa...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Katoh‐Fukui, Yuko, Igarashi, Maki, Nagasaki, Keisuke, Horikawa, Reiko, Nagai, Toshiro, Tsuchiya, Takayoshi, Suzuki, Erina, Miyado, Mami, Hata, Kenichiro, Nakabayashi, Kazuhiko, Hayashi, Keiko, Matsubara, Yoichi, Baba, Takashi, Morohashi, Ken‐ichirou, Igarashi, Arisa, Ogata, Tsutomu, Takada, Shuji, Fukami, Maki
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2015
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4694128/
https://ncbi.nlm.nih.gov/pubmed/26740947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.165
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados