scholarly journals AIFM1 ‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination

2021 ◽  
Author(s):  
Katharine Edgerley ◽  
Angela Barnicoat ◽  
Amaka C. Offiah ◽  
Alistair D. Calder ◽  
Kshitij Mankad ◽  
...  
Keyword(s):  
Spondylometaphyseal Dysplasia

Osteogenic transdifferentiation as ideal in vivo model for inherited hypomyelination with spondylometaphyseal dysplasia (H-SMD)

2017 ◽  
Vol 21 ◽  
pp. e20-e21
Author(s):  
Ferdy Cayami ◽  
Noriko Miyake ◽  
Dimitra Micha ◽  
Joanna Crawford ◽  
Alex Conant ◽  
...  
Keyword(s):  
In Vivo Model ◽  
Spondylometaphyseal Dysplasia

A rare form of spondylometaphyseal dysplasia-type A4

1998 ◽  
Vol 78 (1) ◽  
pp. 61-66 ◽  
Author(s):  
T. Duetting ◽  
A. Schulze ◽  
J. Troeger ◽  
J. Spranger
Keyword(s):  
Rare Form ◽  
Spondylometaphyseal Dysplasia

Spondylometaphyseal dysplasia with cone-rod dystrophy

2004 ◽  
Vol 129A (3) ◽  
pp. 265-276 ◽  
Author(s):  
Brent A. Walters ◽  
Michael L. Raff ◽  
James Ver Hoeve ◽  
Rachel Tesser ◽  
Leonard O. Langer ◽  
...  
Keyword(s):  
Spondylometaphyseal Dysplasia

Coxa Vara with Spondylometaphyseal Dysplasia

2011 ◽  
Vol 46 (3) ◽  
pp. 268
Author(s):  
Tai-Seung Kim ◽  
Suk-hwan Kim ◽  
Kyu-Sung Chung
Keyword(s):  
Coxa Vara ◽  
Spondylometaphyseal Dysplasia

scholarly journals A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga

Medicine ◽  
2019 ◽  
Vol 98 (30) ◽  
pp. e16485 ◽  
Author(s):  
Xianzuo Zhang ◽  
Haiyi Liang ◽  
Weilu Liu ◽  
Xu Li ◽  
Wenzhi Zhang ◽  
...  
Keyword(s):  
Sequence Variant ◽  
Spondylometaphyseal Dysplasia ◽  
Coxa Valga

scholarly journals Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”

Bone ◽  
2019 ◽  
Vol 121 ◽  
pp. 163-171 ◽  
Author(s):  
Alice Costantini ◽  
Helena Valta ◽  
Nissan Vida Baratang ◽  
Patrick Yap ◽  
Débora R. Bertola ◽  
...  
Keyword(s):  
Spondylometaphyseal Dysplasia

Spondylometaphyseal dysplasia, sedaghatian type

1992 ◽  
Vol 44 (5) ◽  
pp. 651-656 ◽  
Author(s):  
J. N. Peeden ◽  
D. L. Rimoin ◽  
R. S. Lachman ◽  
M. L. Dyer ◽  
D. Gerard ◽  
...  
Keyword(s):  
Spondylometaphyseal Dysplasia

scholarly journals Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

PLoS ONE ◽  
2016 ◽  
Vol 11 (3) ◽  
pp. e0150555 ◽  
Author(s):  
Zheng Wang ◽  
Aritoshi Iida ◽  
Noriko Miyake ◽  
Koji M. Nishiguchi ◽  
Kosuke Fujita ◽  
...  
Keyword(s):  
Spondylometaphyseal Dysplasia
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