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Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expression.

作者信息

Shokeir M H, Houston C S, Awen C F

出版信息

J Med Genet. 1971 Mar;8(1):107-12. doi: 10.1136/jmg.8.1.107.

DOI:10.1136/jmg.8.1.107
PMID:5098065
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468975/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5232/1468975/c7082675e814/jmedgene00364-0117-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5232/1468975/91ceb984920e/jmedgene00364-0114-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5232/1468975/1f2732601bae/jmedgene00364-0114-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5232/1468975/b3d9ad82b899/jmedgene00364-0115-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5232/1468975/f424ee74a981/jmedgene00364-0116-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5232/1468975/c7082675e814/jmedgene00364-0117-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5232/1468975/91ceb984920e/jmedgene00364-0114-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5232/1468975/1f2732601bae/jmedgene00364-0114-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5232/1468975/b3d9ad82b899/jmedgene00364-0115-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5232/1468975/f424ee74a981/jmedgene00364-0116-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5232/1468975/c7082675e814/jmedgene00364-0117-a.jpg

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Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expression.窒息性胸廓软骨发育不良。与肾脏疾病的关联及可能的杂合子表达证据。
J Med Genet. 1971 Mar;8(1):107-12. doi: 10.1136/jmg.8.1.107.
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The differential diagnosis of the short-limbed dwarfs presenting at birth.
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Morphologic studies in the skeletal dysplasias.骨骼发育异常的形态学研究。
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本文引用的文献

1
[ASPHYXIATING THROACIC DYSTROPHY. RADIOLOGICAL STUDY AND RELATION TO THE ELLIS-VAN CREVELD SYNDROME].[窒息性胸廓发育不良。放射学研究及其与埃利斯-范克里夫德综合征的关系]
Ann Radiol (Paris). 1964;7:332-8.
2
PATHOGENESIS OF POLYCYSTIC KIDNEYS. HISTORICAL SURVEY.多囊肾的发病机制。历史综述。
Arch Pathol. 1964 May;77:459-65.
3
[Asphyxiating thoracic dystrophy in the infant].[婴儿窒息性胸廓发育不良]
Pediatrie. 1963;18:387-97.
4
[Clinical considerations on a case of polychondrodystrophy].
Minerva Pediatr. 1960 Dec 8;12:1618-22.
5
[Case of polyepiphysial, endochondral dystrophy in a newborn infant with fatal involvement of the respiratory function].
Minerva Pediatr. 1956 Nov 17;8(46):1415-20.
6
[Polychondrodystrophy with fatal throacic blockage].[伴有致命性胸廓阻塞的多软骨发育不良]
Pediatrie. 1954;9(4):390-2.
7
Infantile thoracic dystrophy--a variant of Ellis-Van Creveld syndrome.
J Pediatr. 1967 Dec;71(6):855-64. doi: 10.1016/s0022-3476(67)80011-8.
8
Asphyxiating thoracic dystrophy of the newborn.新生儿窒息性胸廓发育不良
Am J Roentgenol Radium Ther Nucl Med. 1966 Oct;98(2):358-64. doi: 10.2214/ajr.98.2.358.
9
The thoracic asphyxiant dystrophy and renal disease.
Am J Dis Child. 1968 Aug;116(2):192-201. doi: 10.1001/archpedi.1968.02100020194014.