A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
about
Mutated MESP2 causes spondylocostal dysostosis in humans.Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosisCongenital and idiopathic scoliosis: clinical and genetic aspects.Genomic regions associated with kyphosis in swineScoliosis and segmentation defects of the vertebrae.When body segmentation goes wrong.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family.Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations.A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomasThe mouse notches up another success: understanding the causes of human vertebral malformation.Myeloproliferation and hematopoietic stem cell dysfunction due to defective Notch receptor modification by O-fucose glycans.Molecular diagnosis of vertebral segmentation disorders in humans.Detection of Jarcho-Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three-dimensional ultrasound.Notch Signaling in Development, Tissue Homeostasis, and Disease.Ultrasonographic diagnosis of Jarcho-Levin syndrome at 20 weeks' gestation in a fetus without previous family history.Segmentation anomalies of the vertebras and ribs: one expression of the primary developmental field.Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient.
P2860
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P2860
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
description
1999 nî lūn-bûn
@nan
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
@ast
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
@en
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
@nl
type
label
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
@ast
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
@en
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
@nl
prefLabel
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
@ast
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
@en
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
@nl
P2093
P2860
P356
P1476
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
@en
P2093
Abu-Nasra TK
Frayling TM
Hattersley AT
Turnpenny PD
P2860
P304
P356
10.1086/302464
P407
P577
1999-07-01T00:00:00Z