Associated Papers
Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.
Li D et al.
Jci Insight, 2025
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.
Bonde LD et al.
Journal of Human Genetics, 2025
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
Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2
Eren E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2023
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
Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.
Wang Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019
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