NAGER ACROFACIAL DYSOSTOSIS - MINOR FAMILIAL MANIFESTATIONS SUPPORTING DOMINANT INHERITANCE

被引：9

作者：

BONTHRON, DT ^{[1
]}

MACGREGOR, DF ^{[1
]}

BARR, DGD ^{[1
]}

机构：

[1] ROYAL HOSP SICK CHILDREN,DEPT CHILD LIFE & HLTH,EDINBURGH EH9 1LF,MIDLOTHIAN,SCOTLAND

来源：

CLINICAL GENETICS | 1993年 / 43卷 / 03期

关键词：

ACROFACIAL DYSOSTOSIS; DOMINANT; INCOMPLETE PENETRANCE; NAGER; PREAXIAL; VARIABLE EXPRESSIVITY;

D O I：

10.1111/j.1399-0004.1993.tb04436.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a girl with Nager acrofacial dysostosis, three of whose relatives had variable mild anomalies of the thumb. The possible relationship of such minor features to the radial limb anomalies in the proposita provides further evidence that the Nager syndrome can be the manifestation of a dominantly inherited disorder with very variable expressivity.

引用

页码：127 / 131

页数：5

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