Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation

Germline loss‐of‐function GNAS mutations are associated with multiple phenotypes, depending on the parental origin of the mutant allele. Here, we describe an infantile lethal form of atypical pseudohypoparathyroidism type 1a or 1c with severe Albright's hereditary osteodystrophy phenotype, unde...

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Bibliographic Details
Published in:Clin Case Rep
Main Authors: Leclercq, Valérie, Benoit, Valérie, Lederer, Damien, Delaunoy, Melanie, Ruiz, Marcela, de Halleux, Claire, Robaux, Olivier, Wanty, Catherine, Maystadt, Isabelle
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2018
Subjects:
Case Reports
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6186887/
https://ncbi.nlm.nih.gov/pubmed/30349702
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1739
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