Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases.
about
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndromeSegmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations?Genetic aspects of human congenital diaphragmatic hernia.Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomasJarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation.RELAGH - The challenge of having a scientific network in Latin America: An account from the presidents.Molecular diagnosis of vertebral segmentation disorders in humans.Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome).Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.
P2860
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P2860
Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
@zh-cn
2004年学术文章
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2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
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2004年學術文章
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name
Phenotype characterization and ...... ome: a series of 27 new cases.
@en
Phenotype characterization and ...... ome: a series of 27 new cases.
@nl
type
label
Phenotype characterization and ...... ome: a series of 27 new cases.
@en
Phenotype characterization and ...... ome: a series of 27 new cases.
@nl
prefLabel
Phenotype characterization and ...... ome: a series of 27 new cases.
@en
Phenotype characterization and ...... ome: a series of 27 new cases.
@nl
P2093
P2860
P356
P1476
Phenotype characterization and ...... ome: a series of 27 new cases.
@en
P2093
A S Cornier
P2860
P304
P356
10.1002/AJMG.A.30011
P407
P577
2004-07-01T00:00:00Z