An unusual presentation of Smith-Magenis syndrome with iris dysgenesis

被引：9

作者：

Barnicoat, AJ

Moller, HU

Palmer, RW

RussellEggitt, I

Winter, RM

机构：

[1] GREAT ORMOND ST HOSP CHILDREN NHS TRUST,DEPT OPHTHALMOL,LONDON WC1N 3JH,ENGLAND

[2] QUEEN ELIZABETH HOSP CHILDREN,NE THAMES REG CYTOGENET LAB,LONDON E2 8PS,ENGLAND

来源：

CLINICAL DYSMORPHOLOGY | 1996年 / 5卷 / 02期

关键词：

Smith-Magenis syndrome; iris dysgenesis;

D O I：

10.1097/00019605-199604000-00007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A boy who presented with iris dysgenesis is described. He was shown to have Smith-Magenis syndrome with a deletion of 17p11.2.

引用

页码：153 / 158

页数：6

共 13 条

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