A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis

Various inactivating mutations in guanine nucleotide−binding protein, alpha−stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype correlation. Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. Hormone resistance occurs...

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Detalles Bibliográficos
Autores principales: Lubell, Tamar, Garzon, Maria, Anyane−Yeboa, Kwame, Shah, Bina
Formato: Texto
Lenguaje:English
Publicado: Galenos Publishing 2009
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005748/
https://www.ncbi.nlm.nih.gov/pubmed/21274302
http://dx.doi.org/10.4274/jcrpe.v1i5.244

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005748/
https://www.ncbi.nlm.nih.gov/pubmed/21274302
http://dx.doi.org/10.4274/jcrpe.v1i5.244

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