scholarly journals A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family

2021 ◽  
Vol 35 (4) ◽  
Author(s):  
Tangjun Zhou ◽  
Xiao Yang ◽  
Zhiqian Chen ◽  
Yifan Zhou ◽  
Xiankun Cao ◽  
...  
Keyword(s):  
Chinese Family ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Col2a1 Mutation

scholarly journals Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

PLoS ONE ◽  
2015 ◽  
Vol 10 (6) ◽  
pp. e0127529 ◽  
Author(s):  
Xiangjun Huang ◽  
Xiong Deng ◽  
Hongbo Xu ◽  
Song Wu ◽  
Lamei Yuan ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Col2a1 Gene ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita

2001 ◽  
Vol 104 (2) ◽  
pp. 140-146 ◽  
Author(s):  
Sheila Unger ◽  
Jarmo Korkko ◽  
Deborah Krakow ◽  
Ralph S. Lachman ◽  
David L. Rimoin ◽  
...  
Keyword(s):  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Double Heterozygosity

Neurosurgical Interventions for Spondyloepiphyseal Dysplasia Congenita: Clinical Presentation and Assessment of the Literature

2013 ◽  
Vol 80 (3-4) ◽  
pp. 437.e1-437.e8 ◽  
Author(s):  
Anand Veeravagu ◽  
Shivanand P. Lad ◽  
Joaquin Q. Camara-Quintana ◽  
Bowen Jiang ◽  
Lawrence Shuer
Keyword(s):  
Clinical Presentation ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita

scholarly journals COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita

2019 ◽  
Vol Volume 12 ◽  
pp. 235-238
Author(s):  
Raffaella Nenna ◽  
Arianna Turchetti ◽  
Gerarda Mastrogiorgio ◽  
Fabio Midulla
Keyword(s):  
Gene Mutations ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Em Gene

Dwarfism: New Interest Area for Adapted Physical Activity

1996 ◽  
Vol 13 (1) ◽  
pp. 1-15 ◽  
Author(s):  
Leslie J. Low ◽  
Mary J. Knudsen ◽  
Claudine Sherrill
Keyword(s):  
Physical Activity ◽  
Physical Education ◽  
Physical Activities ◽  
Adapted Physical Activity ◽  
Diastrophic Dysplasia ◽  
Spondyloepiphyseal Dysplasia ◽  
Cartilage Hair Hypoplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Spondyloepiphyseal Dysplasia Tarda ◽  
Number Of Individuals

In recent years, the number of individuals with dwarfism participating in sports and physical activities has increased. The Dwarf Athletic Association of America (DAAA) has grown from 30 athletes in 1985 to over 600 in 1994. This paper details the structural, intellectual, motor, orthopedic, and medical characteristics of six types of dwarfism (achondroplasia, hypochon-droplasia, cartilage-hair hypoplasia, diastrophic dysplasia, spondyloepiphyseal dysplasia tarda, and spondyloepiphyseal dysplasia congenita) seen in individuals currently participating in eight DAAA-sanctioned sports. Implications and modifications for participation in physical activity, physical education, and sport are included.

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