伴有多囊肾和肝的口面指综合征：病理和细胞遗传学研究 - Suppr

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Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.

作者信息

Tucker C C, Finley S C, Tucker E S, Finley W H

出版信息

J Med Genet. 1966 Jun;3(2):145-7. doi: 10.1136/jmg.3.2.145.

DOI:10.1136/jmg.3.2.145

PMID:5963210

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1012919/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ca5/1012919/187ec2e1d361/jmedgene00327-0070-a.jpg

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本文引用的文献

[Hereditary abnormality of the buccal mucosa: abnormal bands and frenula].[颊黏膜的遗传性异常：异常条纹和系带]

Revue Stomatol. 1954 Apr;55(4):209-27.

The oral-facial-digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities.口面指综合征：一种伴有相关染色体异常的女性多发先天性疾病。

Pediatrics. 1962 Jun;29:985-95.

Partial-trisomy syndromes. II. An insertion as cause of the OFD syndrome in mother and daughter.部分三体综合征。II. 一次插入作为母亲和女儿患口面指综合征的病因

Chromosoma. 1961;12:573-84. doi: 10.1007/BF00328943.

Chromosomal analysis in a case of orofacial-digital syndrome.一例口面指综合征的染色体分析

N Engl J Med. 1962 Apr 12;266:774-5. doi: 10.1056/NEJM196204122661509.

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An apparently identical extra autosome in two severely retarded sisters with multiple malformations.

Cytogenetics. 1962;1:32-41. doi: 10.1159/000129711.

Disturbances of the metanephronic renal anlage. A case report.后肾肾原基发育异常。病例报告。

Arch Pathol. 1961 Sep;72:343-50.

Hypertrophied frenuli, oligophrenia, familial trembling and anomalies of the hand. Report of four cases in one family and a forme fruste in another.系带肥厚、智力发育不全、家族性震颤及手部异常。一个家族中的4例报告及另一家族中的顿挫型病例。

N Engl J Med. 1961 Mar 9;264:486-9. doi: 10.1056/NEJM196103092641004.

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