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Article

Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.

The Journal of clinical endocrinology and metabolism - 18 Aug 2023

Schigt Heidi, Bald Martin, van der Eerden Bram C J, Gal Lars, Ilenwabor Barnabas P, Konrad Martin, Levine Michael A, Li Dong, Mache Christoph J, Mackin Sharon, Perry Colin, Rios Francisco J, Schlingmann Karl Peter, Storey Ben, Trapp Christine M, Verkerk Annemieke J M H, Zillikens M Carola, Touyz Rhian M, Hoorn Ewout J, Hoenderop Joost G J, de Baaij Jeroen H F

Abstract excerpt

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. Clinically the phenotypes are difficult to distinguish. OBJECTIVE: The objective was to determine and expand the phenotypic spectrum of KCS1 and KCS2 in order to anticipate...

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Identifiers

PMID: 36916904
DOI: 10.1210/clinem/dgad147
PMCID: PMC10438882

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.PMID 36916904Read ↗

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