Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3

BACKGROUND: The term pseudohypoparathyroidism (PHP) describes disorders derived from resistance to the parathyroid hormone. Albright hereditary osteodystrophy (AHO) is a disorder with several physical features that can occur alone or in association with PHP. The subtype 1B, classically associated wi...

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Detalles Bibliográficos
Autores principales: Elli, F. M., deSanctis, L., Maffini, M.A., Bordogna, P., Tessaris, D., Pirelli, A., Arosio, M., Linglart, A., Mantovani, G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322333/
https://www.ncbi.nlm.nih.gov/pubmed/30616679
http://dx.doi.org/10.1186/s13148-018-0607-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322333/
https://www.ncbi.nlm.nih.gov/pubmed/30616679
http://dx.doi.org/10.1186/s13148-018-0607-8

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