Further delineation of phenotype and genotype of Kenny–Caffey syndrome type 2 (phenotype and genotype of KCS type 2)

Authors: Xuefei Chen, Chaochun Zou

Source: Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)

Subject Terms: FAM111A, genotype, hypocalcemia, hypoparathyroidism, Kenny–Caffey syndrome type 2, phenotype, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/7a660dd7e633491ea50b58b04affa55b

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

Authors: 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

Source: Frontiers in Endocrinology, Vol 13 (2023)

Subject Terms: FAM111A, hypoparathyroidism, Kenny-Caffey syndrome type 2, short stature, sensorineural hearing loss, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.1073173/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/02bac41ca56e4632bbd2a7d794dcc9dc