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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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2015
Konular:
Original Articles
Online Erişim: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
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