MALE INFANT WITH ICHTHYOSIS, KALLMANN SYNDROME, CHONDRODYSPLASIA PUNCTATA, AND AN XP CHROMOSOME DELETION

被引:60
作者
BICK, D
CURRY, CJR
MCGILL, JR
SCHORDERET, DF
BUX, RC
MOORE, CM
机构
[1] UNIV TEXAS,HLTH SCI CTR,DEPT OBSTET & GYNECOL,SAN ANTONIO,TX 78284
[2] UNIV TEXAS,HLTH SCI CTR,DEPT CELLULAR & STRUCT BIOL,SAN ANTONIO,TX 78284
[3] OFF MED EXAMINER,SAN ANTONIO,TX
[4] VALLEY CHILDRENS HOSP,DEPT MED GENET,FRESNO,CA
[5] UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1989年 / 33卷 / 01期
关键词
D O I
10.1002/ajmg.1320330114
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:100 / 107
页数:8
相关论文
共 70 条
  • [1] CHONDRODYSPLASIA PUNCTATA WITH X-Y TRANSLOCATION
    AGEMATSU, K
    KOIKE, K
    MOROSAWA, H
    NAKAHORI, Y
    NAKAGOME, Y
    AKABANE, T
    [J]. HUMAN GENETICS, 1988, 80 (01) : 105 - 107
  • [2] HEREDITARY WARFARIN RESISTANCE - INVESTIGATION OF A RARE PHENOMENON
    ALVING, BM
    STRICKLER, MP
    KNIGHT, RD
    BARR, CF
    BERENBERG, JL
    PECK, CC
    [J]. ARCHIVES OF INTERNAL MEDICINE, 1985, 145 (03) : 499 - 501
  • [3] ANDRIA G, 1984, J INHERITED METAB S2, V7, P158
  • [4] HYPOTHALAMIC-PITUITARY FUNCTION IN OLFACTO-GENITAL SYNDROME
    ANTAKI, A
    SOMMA, M
    WYMAN, H
    VANCAMPE.J
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1974, 38 (06) : 1083 - 1089
  • [5] ISOLATION AND CHARACTERIZATION OF A STEROID SULFATASE CDNA CLONE - GENOMIC DELETIONS IN PATIENTS WITH X-CHROMOSOME-LINKED ICHTHYOSIS
    BALLABIO, A
    PARENTI, G
    CARROZZO, R
    SEBASTIO, G
    ANDRIA, G
    BUCKLE, V
    FRASER, N
    CRAIG, I
    ROCCHI, M
    ROMEO, G
    JOBSIS, AC
    PERSICO, MG
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (13) : 4519 - 4523
  • [6] X-LINKED ICHTHYOSIS, DUE TO STEROID SULFATASE DEFICIENCY, ASSOCIATED WITH KALLMANN SYNDROME (HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA) - LINKAGE RELATIONSHIPS WITH XG AND CLONED DNA-SEQUENCES FROM THE DISTAL SHORT ARM OF THE X-CHROMOSOME
    BALLABIO, A
    PARENTI, G
    TIPPETT, P
    MONDELLO, C
    DIMAIO, S
    TENORE, A
    ANDRIA, G
    [J]. HUMAN GENETICS, 1986, 72 (03) : 237 - 240
  • [7] BALLABIO A, 1988, CLIN GENET, V34, P31
  • [8] BERTELSON CJ, 1988, AM J HUM GENET, V42, P703
  • [9] DEVELOPMENT OF HEMOSTASIS IN HUMAN FETUS AND NEWBORN INFANT
    BLEYER, WA
    HAKAMI, N
    SHEPARD, TH
    [J]. JOURNAL OF PEDIATRICS, 1971, 79 (05) : 838 - +
  • [10] DELETION PROXIMAL TO DXS68 LOCUS (L1-PROBE SITE) IN A BOY WITH DUCHENNE MUSCULAR-DYSTROPHY, GLYCEROL KINASE-DEFICIENCY, AND ADRENAL HYPOPLASIA
    CHELLY, J
    MARLHENS, F
    DUTRILLAUX, B
    VANOMMEN, GJ
    LAMBERT, M
    HAIOUN, B
    BOISSINOT, G
    FARDEAU, M
    KAPLAN, JC
    [J]. HUMAN GENETICS, 1988, 78 (03) : 222 - 227