一种与白化病相关的聋哑综合征，呈常染色体显性遗传。 - Suppr

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A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance.

作者信息

TIETZ W

出版信息

Am J Hum Genet. 1963 Sep;15(3):259-64.

PMID:13985019

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1932384/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2f9b/1932384/9398f54c25d7/ajhg00553-0046-a.jpg

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A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance.一种与白化病相关的聋哑综合征，呈常染色体显性遗传。

Am J Hum Genet. 1963 Sep;15(3):259-64.

Comments on the inheritance of deaf mutism in Northern Ireland.关于北爱尔兰聋哑症遗传问题的评论

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Partial albinism and deaf-mutism due to a recessive sex-linked gene.

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RECESSIVE TOTAL ALBINISM AND CONGENITAL DEAF-MUTISM.

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[Particular form of deaf-mutism with dystrophy of inferior lacrimal point, partial albinism and hypoplasia of iridal stroma].

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Hereditary deaf mutism, with particular reference to Northern Ireland.遗传性聋哑，特别提及北爱尔兰地区。

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Genetical investigations in a north-Swedish population; population structure, spastic oligophrenia, deaf mutism.对瑞典北部人群的遗传学研究；人群结构、痉挛性智力发育不全、聋哑症

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Consanguinity and congenital deaf mutism in the Netherlands; are the parents of deaf children detectable as heterozygotes.荷兰的近亲结婚与先天性聋哑；聋哑儿童的父母能否被检测为杂合子。

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本文引用的文献

A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.一种新的综合征，其合并了眼睑、眉毛和鼻根的发育异常，虹膜和头部毛发的色素沉着缺陷以及先天性耳聋。

Am J Hum Genet. 1951 Sep;3(3):195-253.

A new hereditary syndrome--sex linked deafmutism associated with total albinism.

Acta Genet Stat Med. 1962;12:12-9. doi: 10.1159/000151176.

Deafness as part of an hereditary syndrome.作为遗传性综合征一部分的耳聋。

J Laryngol Otol. 1959 Jun;73:355-82. doi: 10.1017/s0022215100055420.

Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects.瓦登伯革氏综合征。一种具有虹膜异色、内眦和泪点向外移位、先天性耳聋以及其他相关特征性缺陷的综合征。

J Pediatr. 1960 Nov;57:649-69. doi: 10.1016/s0022-3476(60)80159-x.

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