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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2015
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Original Articles
Online adgang: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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