Late Diagnosis of POMC Deficiency and in vitro evidence of residual translation from allele with c.-11C>A mutation | Zendy

Aleksandra S. Anisimova | Zendy; П. М. Рубцов | Zendy; Kseniya A. Akulich | Zendy; Sergey E. Dmitriev | Zendy; Elena Frolova | Zendy; Anatoly Tiulpakov | Zendy

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Late Diagnosis of POMC Deficiency and in vitro evidence of residual translation from allele with c.-11C>A mutation

Author(s) -

Aleksandra S. Anisimova,

П. М. Рубцов,

Kseniya A. Akulich,

Sergey E. Dmitriev,

Elena Frolova,

Anatoly Tiulpakov

Publication year - 2016

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.2016-3318

Subject(s) - endocrinology , biology , adrenal insufficiency , medicine , mutation , compound heterozygosity , allele , gene , genetics

Loss-of-function mutations in the POMC gene are associated with a syndrome with the characteristics of adrenal insufficiency, obesity, and red hair. We describe here a case of pro-opiomelanocortin (POMC) deficiency in which adrenal insufficiency was not treated until the fourth year of life. One of the disease-causative POMC mutations was characterized in vitro using a unique approach.

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