Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

Hammarsjö, Anna

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu. [electronic resource] - American journal of medical genetics. Part A Jan 2016 - 266-9 p. digital

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.37387 doi


Adult
Arthroplasty, Replacement, Hip
Arthroplasty, Replacement, Knee
Collagen Type II--genetics
Family
Female
Humans
Joint Diseases--genetics
Male
Middle Aged
Osteochondrodysplasias--congenital
Young Adult