Article
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.
American journal of medical genetics. Part A - 1 Feb 2020
Girisha Katta M, Bhavani Gandham S, Shah Hitesh, Moirangthem Amita, Shukla Anju, Kim Ok-Hwa, Nishimura Gen, Mortier Geert R
Abstract excerpt
The phenotypic spectrum of Type 2 collagenopathies ranges from lethal achondrogenesis Type 2 to milder osteoarthritis with mild chondrodysplasia. All of them are monoallelic except for the two recent reports showing that biallelic variants in COL2A1 can cause spondyloepiphyseal dysplasia congenita in two children. Here we report two additional families with homozygous variants, c.4135C>T (p.Arg1379Cys) and...
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