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FAMILIAL INTESTINAL MALROTATION WITH MIDGUT VOLVULUS AND FACIAL ANOMALIES - A DISORDER INVOLVING A GENE CONTROLLING THE NORMAL GUT ROTATION
被引：12
|作者：
STALKER, HJ
CHITAYAT, D
机构：
[1] HOSP SICK CHILDREN,DEPT MED GENET,555 UNIV AVE,TORONTO M5G 1X8,ONTARIO,CANADA
[2] MONTREAL CHILDRENS HOSP,DEPT PEDIAT,DIV MED GENET,MONTREAL H3H 1P3,QUEBEC,CANADA
[3] MONTREAL CHILDRENS HOSP,CTR HUMAN GENET,MONTREAL H3H 1P3,QUEBEC,CANADA
[4] MCGILL UNIV,MONTREAL H3A 2T5,QUEBEC,CANADA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS
|
1992年
/
44卷
/
01期
关键词：
SMALL INTESTINE;
MALROTATION;
INTESTINAL ATRESIA;
AUTOSOMAL RECESSIVE;
D O I：
10.1002/ajmg.1320440111
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ;
090102 ;
摘要：
We report on 2 sisters with congenital midgut volvulus. Both had similar facial changes different from those of their parents and the other 2 unaffected sibs. Both parents had normal barium meal roentgenograms. The occurrence of these abnormalities in sibs born to parents with apparently normal gastro-intestinal tract anatomy suggest autosomal recessive inheritance, although a coincidence, multifactorial or autosomal dominant inheritance with nonpenetrance in either of the parents cannot be excluded.
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页码：46 / 47
页数：2
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