Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus

Author:

Perez-Nanclares Gustavo,Velayos Teresa,Vela Amaya,Muñoz-Torres Manuel,Castaño Luis

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference35 articles.

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2. Mantovani G, Linglart A, Garin I, Silve C, Elli FM, et al. (2012) Clinical utility gene card for: Pseudohypoparathyroidism. Eur J Hum Genet [Epub 2012 Sep 12]. doi: 10.1038/ejhg.2012.211

3. Isolation and characterization of the human Gs alpha gene;T Kozasa;Proc Natl Acad Sci USA,1988

4. Hormone resistance caused by mutations in G proteins and G protein-coupled receptors;AM Spiegel;J Pediatr Endocrinol Metab,1999

5. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting;LS Weinstein;Endocr Rev,2001

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