Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1

Author:

Al-Sannaa N.A.,Hoornaert K.P.,Van Laer L.,Al-Abdulwahed H.Y.,Mortier G.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference9 articles.

1. Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: lessons for genetic counseling;Barat-Houari;Am. J. Med. Genet.,2016

2. Mutation update for COL2A1 gene variants associated with type II collagenopathies;Barat-Houari;Hum. Mutat.,2016

3. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype;Barat-Houari;Eur. J. Hum. Genet.,2016

4. Precocious osteoarthritis in a family with recurrent COL2A1 mutation;Carlson;J. Rheumatol.,2006

5. Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: further delineation of phenotypic spectrum of recessive Type 2 collagenopathies;Girisha;Am. J. Med. Genet.,2019

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