Associated Papers
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.
Bonde LD et al.
Journal of Human Genetics, 2025
39501122 (PubMed )
Supplement: 10038_2024_1301_MOESM1_ESM.pdf
Kenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.
Hatziagapiou K et al.
Journal of Clinical Medicine, 2024
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype.
Tonelli L et al.
European Journal of Medical Genetics, 2024
Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).
Chen X et al.
Molecular Genetics & Genomic Medicine, 2024
Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
Schigt H et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
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