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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Bibliografiske detaljer
Udgivet i: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
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2018
Fag:
Case Reports
Online adgang: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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