Pathogenic variants of the
AHO, Albright's hereditary osteodystrophy
GNAS gene
GPCR, G protein coupling receptors;
Gsα
HGMD, Human Gene Mutation Database
IRB, Institutional review Board
NMD, Nonsense-mediated decay
Pseudohypoparathyroidism 1A (PHP1A)
Pseudopseudohypoparathyroidism (PPHP)
TSH, Thyroid-stimulating hormone
β6 strand/α5 helix
Journal
Bone reports
ISSN: 2352-1872
Titre abrégé: Bone Rep
Pays: United States
ID NLM: 101646176
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
received:
29
07
2022
revised:
03
11
2022
accepted:
09
11
2022
entrez:
21
11
2022
pubmed:
22
11
2022
medline:
22
11
2022
Statut:
epublish
Résumé
Pseudohypoparathyroidism 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are caused by loss-of-function variants of
Identifiants
pubmed: 36407415
doi: 10.1016/j.bonr.2022.101637
pii: S2352-1872(22)00471-5
pmc: PMC9668531
doi:
Types de publication
Case Reports
Langues
eng
Pagination
101637Informations de copyright
© 2022 The Authors. Published by Elsevier Inc.
Déclaration de conflit d'intérêts
Authors do not have any conflicts of interest to report.
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