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Spinal dysplasia
The presence of developmental dysplasia of the vertebral column. [HPO:probinson]
National Institutes of Health
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2017
2017
Chondrocyte-Specific Knockout of TSC-1 Leads to Congenital Spinal Deformity in Mice
Cheng Yang
,
Yuhui Chen
,
+11 authors
Rongping Zhou
BioMed Research International
2017
Corpus ID: 3635832
Congenital spinal deformity is the most severe clinical orthopedic issue worldwide. Among all the pathological processes of…
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2002
2002
Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae.
A. Verloes
,
P. Lepage
,
C. Baumann
,
P. Maroteaux
,
M. Merrer
American journal of medical genetics
2002
Corpus ID: 36576733
Spondylometaphyseal dysplasias (SMD) are a heterogeneous group of bone dysplasias characterized by vertebral and metaphyseal…
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1995
1995
Novel spinal dysplasia in two generations.
H. Anhalt
,
B. Parker
,
D. Paranjpe
,
E. Neely
,
F. N. Silverman
,
R. Rosenfeld
American journal of medical genetics
1995
Corpus ID: 42118149
We report on a father and son with a previously undescribed skeletal abnormality and severe short stature. Antenatal sonographic…
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1976
1976
Trisomy of chromosome 20
S. Pan
,
S. R. Fatora
,
J. Haas
,
M. Steele
Clinical Genetics
1976
Corpus ID: 29229156
A neonate with unusual facial features and multiple congenital malformations expired at 4 hours of age. An autopsy revealed…
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