De novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency | Zendy

Erina Suzuki | Zendy; Shuichi Yatsuga | Zendy; Maki Igarashi | Zendy; Mami Miyado | Zendy; Kazuhiko Nakabayashi | Zendy; Keiko Hayashi | Zendy; Kenichirou Hata | Zendy; Akihiro Umezawa | Zendy; Gen Yamada | Zendy; Tsutomu Ogata | Zendy; Maki Fukami | Zendy

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De novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency

Author(s) -

Erina Suzuki,

Shuichi Yatsuga,

Maki Igarashi,

Mami Miyado,

Kazuhiko Nakabayashi,

Keiko Hayashi,

Kenichirou Hata,

Akihiro Umezawa,

Gen Yamada,

Tsutomu Ogata,

Maki Fukami

Publication year - 2013

Publication title -

hormone research in paediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.816

H-Index - 89

eISSN - 1663-2826

pISSN - 1663-2818

DOI - 10.1159/000355380

Subject(s) - micropenis , frameshift mutation , fgf8 , missense mutation , endocrinology , medicine , short stature , biology , gonadotropin , mutation , fibroblast growth factor , genetics , hypospadias , hormone , receptor , gene

Missense, nonsense, and splice mutations in the Fibroblast Growth Factor 8(FGF8) have recently been identified in patients with hypothalamo-pituitary dysfunction and craniofacial anomalies. Here, we report a male patient with a frameshift mutation in FGF8.

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