Associated Papers
[Prenatal phenotype and genetic analysis of two fetuses with Osteocraniostenosis due to variants of FAM111A gene].
Zhang L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2026
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
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.
Xue H et al.
Scientific Reports, 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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
FAM111A induces nuclear dysfunction in disease and viral restriction.
Nie M et al.
Embo Reports, 2021
FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease.
Hoffmann S et al.
Embo Reports, 2020
FAM111A protects replication forks from protein obstacles via its trypsin-like domain.
Kojima Y et al.
Nature Communications, 2020
Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.
Pemberton L et al.
Bmc Medical Genetics, 2020
Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.
Abraham MB et al.
International Journal of Pediatric Endocrinology, 2017
FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Unger S et al.
American Journal of Human Genetics, 2013
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