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Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia
BACKGROUND: Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disease primarily characterized by resistance to parathyroid hormone along with hormonal resistance and other features of Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations in the matern...
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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6065144/ https://ncbi.nlm.nih.gov/pubmed/30060753 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0648-z |
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