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
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
Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications.
Naicker D et al.
International Journal of Molecular Sciences, 2024
Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
Schigt H et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S et al.
Genes, 2022
Functions and evolution of FAM111 serine proteases.
Welter AL et al.
Frontiers in Molecular Biosciences, 2022
Case report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up.
Ohmachi Y et al.
Frontiers in Endocrinology, 2022
Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature.
Cheng SSW et al.
American Journal of Medical Genetics. Part A, 2021
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