Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS | Zendy

Alessia Usardi | Zendy; Asmaa Mamoune | Zendy; Elodie Nattes | Zendy; JeanClaude Carel | Zendy; Anya Rothenbühler | Zendy; Agnès Linglart | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS

Author(s) -

Alessia Usardi,

Asmaa Mamoune,

Elodie Nattes,

JeanClaude Carel,

Anya Rothenbühler,

Agnès Linglart

Publication year - 2017

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.2016-3544

Subject(s) - gnas complex locus , pseudohypoparathyroidism , medicine , endocrinology , parathyroid hormone , teriparatide , hypocalcaemia , hyperphosphatemia , hypoparathyroidism , calcium , biology , genetics , gene

Parathormone (PTH) resistance is characterized by hypocalcaemia, hyperphosphatemia, and elevated PTH in the absence of vitamin D deficiency. Pseudohypoparathyroidism type 1A [PHP1A, or inactivating parathormone (PTH)/PTHrp signaling disorder 2, according to the new classification (iPPSD2)], is caused by mutations in the maternal GNAS allele.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research