Case report: Late middle-aged features of
FAM111A
Kenny-Caffey syndrome type 2
hypoparathyroidism
sensorineural hearing loss
short stature
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2022
2022
Historique:
received:
18
10
2022
accepted:
05
12
2022
entrez:
23
1
2023
pubmed:
24
1
2023
medline:
25
1
2023
Statut:
epublish
Résumé
Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare skeletal disorder involving hypoparathyroidism and short stature. It has an autosomal dominant pattern of inheritance and is caused by variants in the FAM111 trypsin-like peptidase A (
Identifiants
pubmed: 36686468
doi: 10.3389/fendo.2022.1073173
pmc: PMC9846794
doi:
Substances chimiques
FAM111A protein, human
0
Receptors, Virus
0
Types de publication
Review
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1073173Informations de copyright
Copyright © 2023 Ohmachi, Urai, Bando, Yokoi, Yamamoto, Kanie, Motomura, Tsujimoto, Sasaki, Oi, Yamamoto, Suzuki, Shichi, Iguchi, Uehara, Fukuoka and Ogawa.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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