Prevalence of Chiari malformation type 1 is increased in pseudohypoparathyroidism type 1A and associated with aberrant bone development

BACKGROUND: Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivating mutations in GNAS. Patients with maternally-inherited mutations develop pseudohypoparathyroidism type 1A (PHP1A) with multi-hormone resistance and aberrant craniofacial and skeletal development among other ab...

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Detalles Bibliográficos
Autores principales: Krishnan, Neetu, McMullan, Patrick, Yang, Qingfen, Buscarello, Alexzandrea N., Germain-Lee, Emily L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858345/
https://www.ncbi.nlm.nih.gov/pubmed/36662765
http://dx.doi.org/10.1371/journal.pone.0280463

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