Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.

Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.

Item
http://www.wikidata.org/entity/Q34238444
Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?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 dysostosisEvidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.Spondylocostal dysostosis.Congenital spinal deformity in a three generation family.Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat.Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases.Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation.Hereditary costovertebral dysplasia with malignant cerebral tumour.Spondylothoracic dysplasia (Jarcho-Levin syndrome) in a Chinese baby.Spondylo-costal dysplasia--severe and moderate types (report of 8 cases).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

Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.

Item
http://www.wikidata.org/entity/Q34238444
description
1968 nî lūn-bûn
@nan
1968 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1968 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1968年の論文
@ja
1968年論文
@yue
1968年論文
@zh-hant
1968年論文
@zh-hk
1968年論文
@zh-mo
1968年論文
@zh-tw
1968年论文
@wuu
name
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.
@ast
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.
@en
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.
@nl
type
label
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.
@ast
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.
@en
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.
@nl
prefLabel
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.
@ast
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.
@en
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.
@en
P2093
P304
P31
P356
10.1016/0002-9343(68)90193-9
P407
P433
P478
P577
P698