Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.
about
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosisTomographic assessment of the spine in children with spondylocostal dysotosis syndrome.Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defectsCongenital and idiopathic scoliosis: clinical and genetic aspects.When body segmentation goes wrong.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family.A retrospective study of congenital scoliosis and associated cardiac and intraspinal abnormities in a Chinese populationSpondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases.Clinical, genetic and environmental factors associated with congenital vertebral malformations.Genetic aspects of congenital and idiopathic scoliosis.The mouse notches up another success: understanding the causes of human vertebral malformation.Lethal progressive thoracic insufficiency in a neonate due to jarcho levin syndrome.Molecular diagnosis of vertebral segmentation disorders in humans.New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis.The outcome of Jarcho-Levin syndrome treated with a functional latissimus dorsi flap - A series of three cases.Detection of Jarcho-Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three-dimensional ultrasound.Ultrasonographic diagnosis of Jarcho-Levin syndrome at 20 weeks' gestation in a fetus without previous family history.Pulmonary hypertension in Jarcho-Levin syndrome.Segmentation anomalies of the vertebras and ribs: one expression of the primary developmental field.Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases.Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient.
P2860
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P2860
Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.
description
1996 nî lūn-bûn
@nan
1996 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
name
Multiple vertebral segmentatio ...... and review of the literature.
@ast
Multiple vertebral segmentatio ...... and review of the literature.
@en
Multiple vertebral segmentatio ...... and review of the literature.
@nl
type
label
Multiple vertebral segmentatio ...... and review of the literature.
@ast
Multiple vertebral segmentatio ...... and review of the literature.
@en
Multiple vertebral segmentatio ...... and review of the literature.
@nl
prefLabel
Multiple vertebral segmentatio ...... and review of the literature.
@ast
Multiple vertebral segmentatio ...... and review of the literature.
@en
Multiple vertebral segmentatio ...... and review of the literature.
@nl
P2093
P2860
P1476
Multiple vertebral segmentatio ...... and review of the literature.
@en
P2093
P2860
P304
P356
10.1002/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y
P577
1996-02-01T00:00:00Z