THE THORACOABDOMINAL SYNDROME (TAS) - A NEW X-LINKED DOMINANT DISORDER

被引：40

作者：

CARMI, R

BARBASH, A

MARES, AJ

机构：

[1] SOROKA UNIV HOSP,DEPT PEDIAT SURG,CLIN GENET UNIT,BEER SHEVA,ISRAEL

[2] BEN GURION UNIV NEGEV,BEER SHEVA,ISRAEL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 36卷 / 01期

关键词：

abdominal wall defect; Cantrell pentalogy; diaphragmatic hernia; X-linked dominant;

D O I：

10.1002/ajmg.1320360122

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a family with a previously undescribed malformation syndrome. The syndrome is composed of diaphragmatic and ventral herniae, hypoplastic lung, and associated cardiac anomalies. The relative number of affected males and females and appreciably severer manifestations in males suggest an X-linked dominant inheritance.

引用

页码：109 / 114

页数：6

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