Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia | Zendy

Ericka Barbosa Trarbach | Zendy; Elaine Maria Frade Costa | Zendy; Beatriz R. Versiani | Zendy; Margaret de Castro | Zendy; Maria Tereza Matias Baptista | Zendy; Heraldo Mendes Garmes | Zendy; Berenice B. Mendonça | Zendy; Ana Claudia Latrônico | Zendy

Open Access

Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia

Author(s) -

Ericka Barbosa Trarbach,

Elaine Maria Frade Costa,

Beatriz R. Versiani,

Margaret de Castro,

Maria Tereza Matias Baptista,

Heraldo Mendes Garmes,

Berenice B. Mendonça,

Ana Claudia Latrônico

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2005-2793

Subject(s) - kallmann syndrome , anosmia , fibroblast growth factor receptor 1 , hypogonadotropic hypogonadism , endocrinology , medicine , genetics , mutation , biology , gene , fibroblast growth factor , receptor , hormone , disease , covid-19 , infectious disease (medical specialty)

Kallmann syndrome is a clinically and genetically heterogeneous disorder. To date, loss-of-function mutations in the genes encoding anosmin-1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1) have been described in the X-linked and autosomal dominant forms of this syndrome, respectively.

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