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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Mol Genet Genomic Med
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2015
Предметы:
Original Articles
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы