ARTERIOHEPATIC DYSPLASIA (ALAGILLE SYNDROME) - EXTREME VARIABILITY AMONG AFFECTED FAMILY MEMBERS

被引：58

作者：

SHULMAN, SA

HYAMS, JS

GUNTA, R

GREENSTEIN, RM

CASSIDY, SB

机构：

[1] UNIV CONNECTICUT,CTR HLTH,DEPT PEDIAT,DIV GASTROENTEROL,FARMINGTON,CT 06032

[2] UNIV CONNECTICUT,CTR HLTH,DEPT PEDIAT,DIV OPHTHALMOL,FARMINGTON,CT 06032

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1984年 / 19卷 / 02期

关键词：

D O I：

10.1002/ajmg.1320190215

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：325 / 332

页数：8

共 18 条

[1]

AHRENS EH, 1951, PEDIATRICS, V8, P628

[2] HEPATIC DUCTULAR HYPOPLASIA ASSOCIATED WITH CHARACTERISTIC FACIES, VERTEBRAL MALFORMATIONS, RETARDED PHYSICAL, MENTAL AND SEXUAL DEVELOPMENT, AND CARDIAC MURMUR [J].

ALAGILLE, D ;

ODIEVRE, M ;

GAUTIER, M ;

DOMMERGUES, JP .

JOURNAL OF PEDIATRICS, 1975, 86 (01) :63-71

[3]

DAHMS BB, 1982, HEPATOLOGY, V2, P350

[4]

GREENWOOD RD, 1976, PEDIATRICS, V58, P243

[5] PROGRESSIVE NEUROMUSCULAR DISEASE IN CHILDREN WITH CHRONIC CHOLESTASIS AND VITAMIN-E-DEFICIENCY - DIAGNOSIS AND TREATMENT WITH ALPHA-TOCOPHEROL [J].

GUGGENHEIM, MA ;

RINGEL, SP ;

SILVERMAN, A ;

GRABERT, BE .

JOURNAL OF PEDIATRICS, 1982, 100 (01) :51-58

[6]

HARPER PS, 1979, MYOTONIC DYSTROPHY, P200

[7] HEREDITARY CHOLESTASIS COMBINED WITH PERIPHERAL PULMONARY STENOSIS AND OTHER ANOMALIES [J].

HENRIKSEN, NT ;

LANGMARK, F ;

SORLAND, SJ ;

FAUSA, O ;

LANDAAS, S ;

AAGENAES, O .

ACTA PAEDIATRICA SCANDINAVICA, 1977, 66 (01) :7-15

[8]

HYAMS JS, 1983, GASTROENTEROLOGY, V85, P430

[9]

LABRECQUE DR, 1982, HEPATOLOGY, V2, P467

[10]

LEVIN SE, 1980, PEDIATRICS, V66, P876

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