A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism
Author:
Publisher
Elsevier BV
Subject
Dermatology
Reference7 articles.
1. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright’s hereditary osteodystrophy;Patten;New Eng J Med,1990
2. Biased signalling: from simple switches to allosteric microprocessors;Smith;Nat Rev Drug Discov,2018
3. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene;Yu;Proc Natl Acadu S A,1998
4. A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS;Linglart;Am J Hum Genet,2005
5. Presentation and clinical progression of pseudohypoparathyroidism with multi-hormone resistance and Albright hereditary osteodystrophy: a case series;Gelfand;J Pediatr,2006
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