Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome
Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome
About this item
Full title
Author / Creator
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 and de Baaij, Jeroen H F
Publisher
US: Oxford University Press
Journal title
Language
English
Formats
Publication information
Publisher
US: Oxford University Press
Subjects
More information
Scope and Contents
Contents
Abstract
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 a...
Alternative Titles
Full title
Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10438882
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10438882
Other Identifiers
ISSN
0021-972X
E-ISSN
1945-7197
DOI
10.1210/clinem/dgad147
