Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
Schigt H, Bald M, van der Eerden BCJ, Gal L, Ilenwabor BP, Konrad M, Levine MA, Li D, Mache CJ, Mackin S, Perry C, Rios FJ, Schlingmann KP, Storey B, Trapp CM, Verkerk AJMH, Zillikens MC, Touyz RM, Hoorn EJ, Hoenderop JGJ, de Baaij JHF.
Schigt H, et al.
J Clin Endocrinol Metab. 2023 Aug 18;108(9):e754-e768. doi: 10.1210/clinem/dgad147.
J Clin Endocrinol Metab. 2023.
PMID: 36916904
Free PMC article.
CONTEXT: Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by pathogenic variants in TBCE and FAM111A, respectively. ...
CONTEXT: Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyt …