Associated Papers
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients.
Wongkittichote P et al.
Journal of Human Genetics, 2021
The role of HCFC1 in syndromic and non-syndromic intellectual disability.
Castro VL et al.
Medical Research Archives, 2020
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
Koufaris C et al.
Biomedical Reports, 2016
A novel somatic mutation in ACD induces telomere lengthening and apoptosis resistance in leukemia cells.
Spinella JF et al.
Bmc Cancer, 2015
Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.
Gérard M et al.
European Journal of Medical Genetics, 2015
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