A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene

Maternally inherited inactivating GNAS mutations are the most common cause of parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO) leading to pseudohypoparathyroidism type Ia (PHPIa) due to Gsα deficiency. Paternally inherited inactivating mutations lead to isolated AHO...

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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: Thiele, Susanne, Werner, Ralf, Grötzinger, Joachim, Brix, Bettina, Staedt, Pia, Struve, Dagmar, Reiz, Benedikt, Farida, Jennane, Hiort, Olaf
Format: Artigo
Sprache:Inglês
Veröffentlicht: BlackWell Publishing Ltd 2015
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4367083/
https://ncbi.nlm.nih.gov/pubmed/25802881
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.117
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