Associated Papers
Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.
Hussain SI et al.
Bmc Medical Genomics, 2024
HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism.
He N et al.
Clinical and Translational Medicine, 2023
37264743 (PubMed )
Supplement: CTM2-13-e1289-s002.docx
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
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Jolly LA et al.
Human Molecular Genetics, 2015
Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.
Gérard M et al.
European Journal of Medical Genetics, 2015
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
Huang L et al.
American Journal of Human Genetics, 2012
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