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...

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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694128/
https://www.ncbi.nlm.nih.gov/pubmed/26740947
http://dx.doi.org/10.1002/mgg3.165

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