FAMILIAL CONGENITAL DIAPHRAGMATIC DEFECT AND ASSOCIATED MIDLINE ANOMALIES - FURTHER EVIDENCE FOR AN X-LINKED MIDLINE GENE

被引：28

作者：

CARMI, R

MEIZNER, I

KATZ, M

机构：

[1] BEN GURION UNIV NEGEV,SOROKA UNIV HOSP,FAC HLTH SCI,DIV OBSTET & GYNECOL,GENET UNIT,IL-84105 BEER SHEVA,ISRAEL

[2] BEN GURION UNIV NEGEV,SOROKA UNIV HOSP,FAC HLTH SCI,DIV OBSTET & GYNECOL,ULTRASOUND UNIT,IL-84105 BEER SHEVA,ISRAEL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 36卷 / 03期

关键词：

cleft palate; hydrops fetalis; midline developmental schisis-morphogenesis; omphalocele;

D O I：

10.1002/ajmg.1320360314

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on familial occurrence of congenital diaphragmatic defect and associated midline anomalies, namely cleft palate and omphalocele in brothers. This family further supports the existence of an X-linked gene involved in the organization of the embryonal midline. This particular mutant gene might be active in the schisis-morphogenesis phenomena occurring at the midline.

引用

页码：313 / 315

页数：3

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