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Article

Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.

European journal of endocrinology - 20 Jul 2023

Ertl Diana-Alexandra, de Nanclares Guiomar Perez, Jüppner Harald, Hanna Patrick, Pagnano Angela, Pereda Arrate, Rothenbuhler Anya, Del Sindaco Giulia, Ruiz-Cuevas Pilar, Audrain Christelle, Escribano Arancha, Berkenou Jugurtha, Gleiss Andreas, Mantovani Giovanna, Linglart Agnès

Abstract excerpt

BACKGROUND: Maternal inactivating GNAS mutations lead to pseudohypoparathyroidism 1A (PHP1A), newly classified as inactivating parathyroid hormone (PTH)/PTHrP-signaling disorder type 2 of maternal inheritance (iPPSD2). Patients present with resistance to PTH and other hormones, subcutaneous ossifications, brachydactyly, short stature, and early-onset obesity. They can be born small for gestational age (SGA) and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to GTP-Binding Protein alpha Subunits, Gs

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Identifiers

PMID: 37440712
DOI: 10.1093/ejendo/lvad085
PMCID: PMC11077274

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