Guanine Nucleotide-Binding Protein α Subunit Hypofunction in Children with Short Stature and Disproportionate Shortening of the 4th and 5th Metacarpals | Zendy

Ioana Inta | Zendy; Daniela Choukair | Zendy; Sebastian Bender | Zendy; Carolin Kneppo | Zendy; Sabine Knauer-Fischer | Zendy; Kahina Meyenburg | Zendy; Boris Ivandic | Zendy; Stefan M. Pfister | Zendy; Markus Bettendorf | Zendy

Open Access

Guanine Nucleotide-Binding Protein α Subunit Hypofunction in Children with Short Stature and Disproportionate Shortening of the 4th and 5th Metacarpals

Author(s) -

Ioana Inta,

Daniela Choukair,

Sebastian Bender,

Carolin Kneppo,

Sabine Knauer-Fischer,

Kahina Meyenburg,

Boris Ivandic,

Stefan M. Pfister,

Markus Bettendorf

Publication year - 2014

Publication title -

hormone research in paediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.816

H-Index - 89

eISSN - 1663-2826

pISSN - 1663-2818

DOI - 10.1159/000356928

Subject(s) - gnas complex locus , short stature , gs alpha subunit , phenotype , endocrinology , medicine , pseudohypoparathyroidism , protein subunit , biology , epigenetics , genetics , gene , g protein , parathyroid hormone , receptor , calcium

GNAS encodes the α subunit of the stimulatory G protein (Gsα). Maternal inherited Gsα mutations cause pseudohypoparathyroidism type Ia (PHP-Ia), associated with shortening of the 4th and 5th metacarpals.

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