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oai:serval.unil.ch:BIB_2D9B0A20E958
2024-03-23T02:06:07Z
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Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder
10.1002/ajmg.a.31081
000235816500001
16470600
Renella
R.
author
Schaefer
E.
author
LeMerrer
M.
author
Alanay
Y.
author
Kandemir
N.
author
Eich
G.
author
Costa
T.
author
Ballhausen
D.
author
Boltshauser
E.
author
Bonafe
L.
author
Giedion
A.
author
Unger
S.
author
Superti-Furga
A.
author
article
casereport
2006-03
American Journal of Medical Genetics. Part A
1552-4825
journal
140
6
541-50
Abnormalities, Multiple/genetics/pathology/radiography
Adolescent
Adult
Bone and Bones/abnormalities/radiography
Brain Diseases/*pathology
Calcinosis/*pathology
Child
Child, Preschool
Family Health
Female
Humans
Immune System Diseases/*pathology
Male
Muscle Spasticity/*pathology
Osteochondrodysplasias/*pathology
Pedigree
eng
60_published
peer-reviewed
Journal Article --- Old month value: Mar 15