scholarly journals Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

2020 ◽  
Author(s):  
Alice Costantini ◽  
Jessica J Alm ◽  
Francesca Tonelli ◽  
Helena Valta ◽  
Céline Huber ◽  
...  
Keyword(s):  
Spondyloepimetaphyseal Dysplasia

A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia

1999 ◽  
Vol 5 (2) ◽  
pp. 79???86
Author(s):  
S. F. Slaney ◽  
C. M. Hall ◽  
D. J. Atherton ◽  
R. M. Winter
Keyword(s):  
Spondyloepimetaphyseal Dysplasia

scholarly journals The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

2018 ◽  
Vol 40 (3) ◽  
pp. 299-309 ◽  
Author(s):  
Katta M. Girisha ◽  
Leonie von Elsner ◽  
Kausthubham Neethukrishna ◽  
Mamta Muranjan ◽  
Anju Shukla ◽  
...  
Keyword(s):  
Mitochondrial Function ◽  
Homozygous Variant ◽  
Spondyloepimetaphyseal Dysplasia

Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype

2013 ◽  
Vol 161 (6) ◽  
pp. 1300-1308 ◽  
Author(s):  
Beyhan Tüysüz ◽  
Saliha Yılmaz ◽  
Ece Gül ◽  
Luis Kolb ◽  
Kaya Bilguvar ◽  
...  
Keyword(s):  
Spondyloepimetaphyseal Dysplasia

Diastrophic Dysplasia and Related Conditions, and Dysplasias with Joint Dislocations

2018 ◽  
pp. 245-306
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Joint Laxity ◽  
Diastrophic Dysplasia ◽  
Desbuquois Dysplasia ◽  
Recessive Type ◽  
Joint Dislocations ◽  
Bone Dysplasias ◽  
Epiphyseal Dysplasia ◽  
Spondyloepimetaphyseal Dysplasia

This chapter further discusses bone dysplasias and includes discussion on achondrogenesis (type IB), atelosteogenesis type 2, diastrophic dysplasia, multiple epiphyseal dysplasia (recessive type [rMED]), Desbuquois dysplasia, chondrodysplasia with joint dislocations (IMPAD1/gPAPP type), Catel-Manzke syndrome, chondrodysplasia with congenital joint dislocations (CHST3-type), temtamy preaxial brachydactyly syndrome (TPBS), B4GALT7 deficiency, B3GAT3 deficiency, XYLT1 deficiency, spondyloepimetaphyseal dysplasia with joint laxity Beighton type, spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type), pseudodiastrophic dysplasia, and Steel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report

2020 ◽  
Vol 63 (11) ◽  
pp. 104021
Author(s):  
Guiping Zhang ◽  
Shiwei Tang ◽  
Hongli Wang ◽  
Huan Pan ◽  
Wei Zhang ◽  
...  
Keyword(s):  
Spondyloepimetaphyseal Dysplasia

Spondyloepimetaphyseal dysplasia with neurodegeneration associated withAIFM1mutation - a novel phenotype of the mitochondrial disease

2016 ◽  
Vol 91 (1) ◽  
pp. 30-37 ◽  
Author(s):  
H. Mierzewska ◽  
M. Rydzanicz ◽  
T. Biegański ◽  
J. Kosinska ◽  
M. Mierzewska-Schmidt ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Spondyloepimetaphyseal Dysplasia

scholarly journals Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia

Bone Reports ◽  
2020 ◽  
Vol 13 ◽  
pp. 100647
Author(s):  
Alice Costantini ◽  
Jessica J. Alm ◽  
Francesca Tonelli ◽  
Helena Valta ◽  
Céline Huber ◽  
...  
Keyword(s):  
Incomplete Penetrance ◽  
Spondyloepimetaphyseal Dysplasia

scholarly journals A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia

QJM ◽  
2003 ◽  
Vol 96 (9) ◽  
pp. 663-671 ◽  
Author(s):  
C. Tysoe ◽  
J. Saunders ◽  
L. White ◽  
N. Hills ◽  
M. Nicol ◽  
...  
Keyword(s):  
Aspartic Acid ◽  
Spondyloepimetaphyseal Dysplasia
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