斯蒂克勒综合征。 - Suppr

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超能文献

Stickler's syndrome.

作者信息

Temple I K

机构信息

Mothercare Department of Genetics, Institute of Child Health, London.

出版信息

J Med Genet. 1989 Feb;26(2):119-26. doi: 10.1136/jmg.26.2.119.

DOI:10.1136/jmg.26.2.119

PMID:2918540

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015563/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff8c/1015563/78b79ab6162c/jmedgene00052-0048-a.jpg

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本文引用的文献

HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.遗传性进行性关节-眼病

Mayo Clin Proc. 1965 Jun;40:433-55.

[SIMULTANEOUS OCCURRANCE OF THE PIERRE ROBIN SYNDROME AND FETAL CHONDRODYSPLASIA].[皮埃尔·罗宾综合征与胎儿软骨发育不良的同时发生]

Monatsschr Kinderheilkd (1902). 1964 Jun;112:315-7.

Ectodermal dysplasia; report of kindred with ocular abnormalities and hearing defect.外胚层发育不良；伴有眼部异常和听力缺陷的家族报告。

Am J Ophthalmol. 1958 Apr;45(4 Pt 2):143-56.

[Differential diagnosis between dysostosis enchondralis and chondrodystrophy].[内生软骨发育异常与软骨发育不良的鉴别诊断]

Z Kinderheilkd. 1952;70(6):633-40.

Marshall/Stickler syndrome.马歇尔/斯蒂克勒综合征

J Med Genet. 1982 Apr;19(2):139-40. doi: 10.1136/jmg.19.2.139.

The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome.

Am J Med Genet. 1982 Jan;11(1):113-9. doi: 10.1002/ajmg.1320110113.

The Marshall and Stickler syndromes: objective rejection of lumping.马歇尔综合征和斯蒂克勒综合征：反对笼统归类的客观依据

J Med Genet. 1984 Feb;21(1):34-8. doi: 10.1136/jmg.21.1.34.

The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity.

Am J Med Genet. 1983 Oct;16(2):189-99. doi: 10.1002/ajmg.1320160209.

A recessively inherited chondrodystrophy.一种隐性遗传的软骨发育不良。

Birth Defects Orig Artic Ser. 1970 Oct;6(4):25-7.

Hereditary hyaloideoretinal degeneration and palatoschisis.

Arch Ophthalmol. 1970 Feb;83(2):152-62. doi: 10.1001/archopht.1970.00990030154006.

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