TY  - GEN
AU  - Hammarsjö,Anna
AU  - Nordgren,Ann
AU  - Lagerstedt-Robinson,Kristina
AU  - Malmgren,Helena
AU  - Nilsson,Daniel
AU  - Wedrén,Sara
AU  - Nordenskjöld,Magnus
AU  - Nishimura,Gen
AU  - Grigelioniene,Giedre
TI  - Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu
SN  - 1552-4833
PY  - 2016///1019
KW  - Adult
KW  - Arthroplasty, Replacement, Hip
KW  - Arthroplasty, Replacement, Knee
KW  - Collagen Type II
KW  - genetics
KW  - Family
KW  - Female
KW  - Humans
KW  - Joint Diseases
KW  - Male
KW  - Middle Aged
KW  - Osteochondrodysplasias
KW  - congenital
KW  - Young Adult
N1  - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.37387
ER  -