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

Autor: F. M. Elli, L. deSanctis, M.A. Maffini, P. Bordogna, D. Tessaris, A. Pirelli, M. Arosio, A. Linglart, G. Mantovani

Publikováno v: Clinical Epigenetics, Vol 11, Iss 1, Pp 1-8 (2019)

Abstract 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 assoc

Externí odkaz: https://doaj.org/article/b756e09f345d4a18921669574b2a835f

Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report

Autor: Lurdes Lopes, Catarina Garcia, Cátia R Correia

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a 2-year history of involuntary dystonic movements involving mainly the left hand, in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c87b7b37d977af81015a7a44b5c62a76
https://pubmed.ncbi.nlm.nih.gov/28648114

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