FGFR2 mutation in 46,XY sex reversal with craniosynostosis

Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Bagheri-Fam, Stefan, Ono, Makoto, Li, Li, Zhao, Liang, Ryan, Janelle, Lai, Raymond, Katsura, Yukako, Rossello, Fernando J., Koopman, Peter, Scherer, Gerd, Bartsch, Oliver, Eswarakumar, Jacob V.P., Harley, Vincent R.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4634374/
https://ncbi.nlm.nih.gov/pubmed/26362256
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv374
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