Fahr syndrome discovered in adulthood revealing a rare
Albright's hereditary osteodystrophy
Fahr syndrome
GNAS mutation
molecular analysis
pseudohypoparathyroidism
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
May 2022
May 2022
Historique:
received:
13
03
2022
revised:
26
04
2022
accepted:
27
04
2022
entrez:
23
5
2022
pubmed:
24
5
2022
medline:
24
5
2022
Statut:
epublish
Résumé
Pseudohypoparathyroidism (PHP) indicates a rare heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biologic activity of PTH. One of its most common types is PHP-1a. In this report, we present a familial PHP-1a and a novel mutation of the
Identifiants
pubmed: 35600030
doi: 10.1002/ccr3.5849
pii: CCR35849
pmc: PMC9109644
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e05849Informations de copyright
© 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
Références
J Clin Endocrinol Metab. 2016 Jun;101(6):2300-12
pubmed: 26943721
Clin Case Rep. 2022 May 16;10(5):e05849
pubmed: 35600030
BMC Endocr Disord. 2021 Jan 9;21(1):12
pubmed: 33422028
Case Rep Endocrinol. 2018 Jan 22;2018:7813591
pubmed: 29796323
Case Rep Endocrinol. 2019 Jan 9;2019:8456239
pubmed: 30729047
Eur J Hum Genet. 2019 Nov;27(11):1649-1658
pubmed: 31186545
Hum Mutat. 2011 Jun;32(6):653-60
pubmed: 21488135
J Clin Endocrinol Metab. 2007 Mar;92(3):1073-9
pubmed: 17164301
J Endocrinol Invest. 2017 Apr;40(4):347-356
pubmed: 27995443
Clin Endocrinol (Oxf). 2018 Feb;88(2):285-294
pubmed: 29136292
Nat Rev Endocrinol. 2018 Aug;14(8):476-500
pubmed: 29959430
Curr Opin Pediatr. 2019 Aug;31(4):537-549
pubmed: 31145125