Associated Papers
Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.
Pan X et al.
Journal of Molecular Medicine (berlin, Germany), 2026
Case Report: A case of Fraser syndrome 2 in a Chinese fetus caused by novel compound heterozygous variants in the FREM2 gene.
Wei W et al.
Frontiers in Medicine, 2025
Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.
Liu JL et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
36549658 (PubMed )
Supplement: gfac338_supplemental_file.pdf
Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation.
Kantaputra PN et al.
Journal of Human Genetics, 2022
Excluding embryos with two novel mutations in FREM2 gene by the next-generation sequencing-based single nucleotide polymorphism haplotyping.
Zhou Y et al.
Aging, 2021
Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report.
Mbonda A et al.
Bmc Pediatrics, 2019
Loss-of-function mutations in FREM2 disrupt eye morphogenesis.
Zhang X et al.
Experimental Eye Research, 2019
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.
Yu Q et al.
Human Molecular Genetics, 2018
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