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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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Leclercq, Valérie, Benoit, Valérie, Lederer, Damien, Delaunoy, Melanie, Ruiz, Marcela, de Halleux, Claire, Robaux, Olivier, Wanty, Catherine, Maystadt, Isabelle
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Case Reports
Acesso em linha: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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