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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Detalles Bibliográficos
Autores principales: Leclercq, Valérie, Benoit, Valérie, Lederer, Damien, Delaunoy, Melanie, Ruiz, Marcela, de Halleux, Claire, Robaux, Olivier, Wanty, Catherine, Maystadt, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186887/
https://www.ncbi.nlm.nih.gov/pubmed/30349702
http://dx.doi.org/10.1002/ccr3.1739

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186887/
https://www.ncbi.nlm.nih.gov/pubmed/30349702
http://dx.doi.org/10.1002/ccr3.1739

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