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
收藏
页码:325 / 332
页数:8
相关论文
共 50 条
  • [21] INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME 20 IN ARTERIOHEPATIC DYSPLASIA (ALAGILLE SYNDROME)
    ZHANG, FR
    DELEUZE, JF
    AURIAS, A
    DUTRILLAUX, AM
    HUGON, RN
    ALAGILLE, D
    THOMAS, G
    HADCHOUEL, M
    JOURNAL OF PEDIATRICS, 1990, 116 (01): : 73 - 77
  • [22] Alagille syndrome (arteriohepatic dysplasia): follow up of 23 years of stable ocular findings
    Groh, MJM
    Wenkel, H
    Mayer, UM
    KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 1998, 212 (03) : 175 - 177
  • [23] DISTINCT HEPATIC RETENTION OF TC-99M IDA IN ARTERIOHEPATIC DYSPLASIA (ALAGILLE SYNDROME)
    ABURANO, T
    YOKOYAMA, K
    TAKAYAMA, T
    TONAMI, N
    HISADA, K
    CLINICAL NUCLEAR MEDICINE, 1989, 14 (12) : 874 - 876
  • [24] A Faithful JAGGED1 Haploinsufficiency Mouse Model of Arteriohepatic Dysplasia (Alagille Syndrome) After All
    Huppert, Stacey S.
    HEPATOLOGY, 2016, 63 (02) : 365 - 367
  • [25] SYNDROMIC PAUCITY OF INTERLOBULAR BILE-DUCTS (ALAGILLE SYNDROME OR ARTERIOHEPATIC DYSPLASIA) - REVIEW OF 80 CASES
    ALAGILLE, D
    ESTRADA, A
    HADCHOUEL, M
    GAUTIER, M
    ODIEVRE, M
    DOMMERGUES, JP
    JOURNAL OF PEDIATRICS, 1987, 110 (02): : 195 - 200
  • [26] Autosomal dominant Robinow syndrome in 11 affected family members: Marked phenotypic variability.
    Kostiner, D
    Cox, V
    Golabi, M
    Hoyme, HE
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 301 - 301
  • [27] THE INHERITANCE OF FELTYS SYNDROME IN A FAMILY WITH SEVERAL AFFECTED MEMBERS
    RUNGE, LA
    DAVEY, FR
    GOLDBERG, J
    BOYD, PR
    JOURNAL OF RHEUMATOLOGY, 1986, 13 (01) : 39 - 42
  • [28] WERNERS SYNDROME - A LIBYAN FAMILY WITH 9 AFFECTED MEMBERS
    RADHAKRISHNAN, K
    MALOO, JC
    THACKER, AK
    MOUSA, ME
    ANNALS OF SAUDI MEDICINE, 1991, 11 (06) : 712 - 715
  • [29] Extreme structural heterogeneity among the members of a maize retrotransposon family
    Marillonnet, S
    Wessler, SR
    GENETICS, 1998, 150 (03) : 1245 - 1256
  • [30] VARIABILITY AMONG MEMBERS OF THE HOR-2 MULTIGENE FAMILY
    KANAZIN, V
    ANANIEV, E
    BLAKE, T
    GENOME, 1993, 36 (03) : 397 - 403