Associated Papers
First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants.
Reshadmanesh A et al.
Archives of Iranian Medicine, 2024
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1
HERC1 mutations in idiopathic intellectual disability.
Utine GE et al.
European Journal of Medical Genetics, 2017
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
Aggarwal S et al.
American Journal of Medical Genetics. Part A, 2016
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.
Nguyen LS et al.
European Journal of Human Genetics : Ejhg, 2016
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