Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome

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: T...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Clinical Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10438882/
https://www.ncbi.nlm.nih.gov/pubmed/36916904
http://dx.doi.org/10.1210/clinem/dgad147

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10438882/
https://www.ncbi.nlm.nih.gov/pubmed/36916904
http://dx.doi.org/10.1210/clinem/dgad147

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