Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies

Katta M. Girisha, Gandham S. Bhavani, Hitesh Shah, Amita Moirangthem, Anju Shukla, Ok Hwa Kim, Gen Nishimura, Geert R. Mortier

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