scholarly journals NovelCOL2A1Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type

2015 ◽  
Vol 36 (10) ◽  
pp. 1004-1008 ◽  
Author(s):  
Julie Jurgens ◽  
Nara Sobreira ◽  
Peggy Modaff ◽  
Catherine A. Reiser ◽  
Soo Hyun Seo ◽  
...  
Keyword(s):  
Progressive Pseudorheumatoid Dysplasia ◽  
Spondyloepiphyseal Dysplasia

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

Progressive pseudorheumatoid dysplasia: radiographic evolution over 20 years

2021 ◽  
Author(s):  
Jacopo Ciaffi ◽  
Elena Borlandelli ◽  
Giancarlo Facchini ◽  
Marco Miceli ◽  
Riccardo Meliconi ◽  
...  
Keyword(s):  
Progressive Pseudorheumatoid Dysplasia

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

Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome

1988 ◽  
Vol 81 (1) ◽  
pp. 61-63 ◽  
Author(s):  
S. Szpiro-Tapia ◽  
A. Sefiani ◽  
M. Guilloud-Bataille ◽  
S. Heuertz ◽  
B. Le Marec ◽  
...  
Keyword(s):  
Genetic Markers ◽  
X Chromosome ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Tarda

A Case of Spondyloepiphyseal Dysplasia Tarda (SEDT) Misdiagnosed as Ankylosing Spondylitis

2011 ◽  
Vol 18 (4) ◽  
pp. 311 ◽  
Author(s):  
Il Hwan Oh ◽  
June Seok Song ◽  
Dong Hwi Rim ◽  
Jong Wook Choi ◽  
Seunghun Lee ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Tarda

scholarly journals MRI findings in Dyggve-Melchior-Clausen syndrome, a rare spondyloepiphyseal dysplasia

2005 ◽  
Vol 22 (4) ◽  
pp. 572-576 ◽  
Author(s):  
Pedro Gutiérrez Carbonell ◽  
Pedro Doménech Fernández ◽  
Javier Roca Vicente-Franqueira
Keyword(s):  
Mri Findings ◽  
Spondyloepiphyseal Dysplasia
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