Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up

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 (FAM111A) gene. This disease is often difficult to diagnose...

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Detalles Bibliográficos
Autores principales: Ohmachi, Yuka, Urai, Shin, Bando, Hironori, Yokoi, Jun, Yamamoto, Masaaki, Kanie, Keitaro, Motomura, Yuma, Tsujimoto, Yasutaka, Sasaki, Yuriko, Oi, Yuka, Yamamoto, Naoki, Suzuki, Masaki, Shichi, Hiroki, Iguchi, Genzo, Uehara, Natsumi, Fukuoka, Hidenori, Ogawa, Wataru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9846794/
https://www.ncbi.nlm.nih.gov/pubmed/36686468
http://dx.doi.org/10.3389/fendo.2022.1073173

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9846794/
https://www.ncbi.nlm.nih.gov/pubmed/36686468
http://dx.doi.org/10.3389/fendo.2022.1073173

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