Holt-Oram syndrome and multiple ventricular septal defects: an association suggesting a possible genetic marker?

被引：5

作者：

Bennhagen, RG ^{[1
]}

Menahem, S ^{[1
]}

机构：

[1] Royal Childrens Hosp, Dept Cardiol, Parkville, Vic 3052, Australia

来源：

CARDIOLOGY IN THE YOUNG | 1998年 / 8卷 / 01期

关键词：

multiple ventricular septal defects; Holt-Oram syndrome;

D O I：

10.1017/S1047951100004789

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A family is described where the father has the many skeletal, but none of the cardiac abnormalities associated with the Holt-Gram syndrome. His two daughters have similar skeletal anomalies, but with identical cardiac lesions, as does another patient, raising the possibility of an associated genetic marker.

引用

页码：128 / 130

页数：3

共 5 条

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NATURE GENETICS, 1994, 6 (04) :405-408

[3]

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[4]

SERRAF A, 1992, J THORAC CARDIOV SUR, V103, P437

[5] HOLT-GRAM SYNDROME IS A GENETICALLY HETEROGENEOUS DISEASE WITH ONE LOCUS MAPPING TO HUMAN-CHROMOSOME 12Q [J].

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NEWBURYECOB, R ;

CROSS, GS ;

FENTON, I ;

RAEBURN, JA ;

YOUNG, ID ;

BROOK, JD .

NATURE GENETICS, 1994, 6 (04) :401-404

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