Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gs? gene mutation

M. Nakamoto, Jon; Sandstrom, Anna; S. Brickman, Arnold; A. Christenson, Robert; Van Dop, Cornelis

doi:10.1002/(sici)1096-8628(19980526)77:4<261::aid-ajmg2>3.0.co;2-q

Public

Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gs? gene mutation

Published in American Journal of Medical Genetics • May 26, 1998

Authors:

Jon M. Nakamoto

Anna Sandstrom

Arnold S. Brickman

Abstract

While loss-of-function mutations in Gsalpha are invariably associated with the short stature and brachydactyly of Albright hereditary osteodystrophy (AHO), the association with hormone resistance (to parathyroid hormone and thyrotropin) typical of pseudohypoparathyroidism type Ia (PHP-Ia) is much mo...

Subject

Pseudohypoparathyroidism

Mutation

Genetics

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