Yuka Ohmachi Shin Urai Hironori Bando Jun Yokoi Masaaki Yamamoto Keitaro Kanie Yuma Motomura Yasutaka Tsujimoto Yuriko Sasaki Yuka Oi Naoki Yamamoto Masaki Suzuki Hiroki Shichi Genzo Iguchi Natsumi Uehara Hidenori Fukuoka Wataru Ogawa
10.3389/fendo.2022.1073173
Front Endocrinol (Lausanne)
2023 Jan 4;13:1073173.
fam111a kenny-caffey syndrome type 2 hypoparathyroidism sensorineural hearing loss short stature
CC BY
https://pubmed.ncbi.nlm.nih.gov/36686468/
Dwarfism Hyperostosis, Cortical, Congenital / genetics Hypoparathyroidism
Dwarfism Hyperostosis, Cortical, Congenital / genetics Hypoparathyroidism Review Case Reports Child Female Follow-Up Studies Humans Middle Aged Receptors, Virus / genetics FAM111A protein, human Receptors, Virus Kenny-Caffey syndrome, type 2
PMC9846794
36686468
Case report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up
2023