科芬-洛里综合征 - Suppr

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超能文献

The Coffin-Lowry syndrome.

作者信息

Young I D

机构信息

Department of Child Health, Leicester Royal Infirmary.

出版信息

J Med Genet. 1988 May;25(5):344-8. doi: 10.1136/jmg.25.5.344.

DOI:10.1136/jmg.25.5.344

PMID:3290491

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050463/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc53/1050463/a2e9ccde3d28/jmedgene00067-0057-a.jpg

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The Coffin-Lowry syndrome.科芬-洛里综合征

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本文引用的文献

Brief clinical report: early recognition of the Coffin-Lowry syndrome.简要临床报告：科芬-洛里综合征的早期识别

Am J Med Genet. 1981;8(2):215-20. doi: 10.1002/ajmg.1320080212.

The Coffin-Lowry syndrome. Experience from four centres.考芬-洛里综合征。来自四个中心的经验。

Clin Genet. 1982 May;21(5):321-35. doi: 10.1111/j.1399-0004.1982.tb01379.x.

Orodental findings and genetic disorders.口腔牙齿检查结果与遗传疾病

Birth Defects Orig Artic Ser. 1982;18(1):79-120.

Coffin-Lowry syndrome in an Afro-American family.

Am J Med Genet. 1982 Mar;11(3):373-5. doi: 10.1002/ajmg.1320110317.

Abnormal proteodermatan sulfate in three patients with Coffin-Lowry syndrome.三名患有科芬-洛里综合征患者的异常硫酸皮肤素蛋白聚糖

Pediatr Res. 1983 Nov;17(11):926-9. doi: 10.1203/00006450-198311000-00018.

The Coffin-Lowry syndrome. A study of two new index patients and their families.

Eur J Pediatr. 1984 Dec;143(2):82-6. doi: 10.1007/BF00445790.

Forearm fullness in Coffin-Lowry syndrome: a misleading yet possible early diagnostic clue.科芬-洛里综合征中的前臂丰满：一个具有误导性但可能的早期诊断线索。

Am J Med Genet. 1984 Jun;18(2):195-9. doi: 10.1002/ajmg.1320180203.

A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.一种新的显性基因所致智力发育迟缓综合征。与身材矮小、手指细长、特殊面容以及可能的脑积水相关。

Am J Dis Child. 1971 Jun;121(6):496-500.

[The coffin, Siris, Wegienka syndrome].[棺材，西里斯，韦吉恩卡综合征]

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