Variations inPROKR2, But NotPROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia | Zendy

Mark J. McCabe | Zendy; Carles GastonMassuet | Zendy; Louise Gregory | Zendy; Kyriaki S. Alatzoglou | Zendy; Vaitsa Tziaferi | Zendy; Oualid Sbai | Zendy; Philippe Rondard | Zendy; Kohhei Masumoto | Zendy; Mamoru Nagano | Zendy; Yasufumi Shigeyoshi | Zendy; Marija Pfeifer | Zendy; Tony Hulse | Zendy; Charles Buchanan | Zendy; Nelly Pitteloud | Zendy; Juan Pedro Martı́nez-Barberá | Zendy; Mehul Dattani | Zendy

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Variations inPROKR2, But NotPROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia

Author(s) -

Mark J. McCabe,

Carles GastonMassuet,

Louise Gregory,

Kyriaki S. Alatzoglou,

Vaitsa Tziaferi,

Oualid Sbai,

Philippe Rondard,

Kohhei Masumoto,

Mamoru Nagano,

Yasufumi Shigeyoshi,

Marija Pfeifer,

Tony Hulse,

Charles Buchanan,

Nelly Pitteloud,

Juan Pedro Martı́nez-Barberá,

Mehul Dattani

Publication year - 2013

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.2012-3067

Subject(s) - kallmann syndrome , anosmia , medicine , compound heterozygosity , endocrinology , hypopituitarism , phenotype , genotype , genetics , biology , gene , disease , covid-19 , infectious disease (medical specialty)

Loss-of-function mutations in PROK2 and PROKR2 have been implicated in Kallmann syndrome (KS), characterized by hypogonadotropic hypogonadism and anosmia. Recent data suggest overlapping phenotypes/genotypes between KS and congenital hypopituitarism (CH), including septo-optic dysplasia (SOD).

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