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 [J].
AGEMATSU, K ;
KOIKE, K ;
MOROSAWA, H ;
NAKAHORI, Y ;
NAKAGOME, Y ;
AKABANE, T .
HUMAN GENETICS, 1988, 80 (01) :105-107
[2]   HEREDITARY WARFARIN RESISTANCE - INVESTIGATION OF A RARE PHENOMENON [J].
ALVING, BM ;
STRICKLER, MP ;
KNIGHT, RD ;
BARR, CF ;
BERENBERG, JL ;
PECK, CC .
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 [J].
ANTAKI, A ;
SOMMA, M ;
WYMAN, H ;
VANCAMPE.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 [J].
BALLABIO, A ;
PARENTI, G ;
CARROZZO, R ;
SEBASTIO, G ;
ANDRIA, G ;
BUCKLE, V ;
FRASER, N ;
CRAIG, I ;
ROCCHI, M ;
ROMEO, G ;
JOBSIS, AC ;
PERSICO, MG .
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 [J].
BALLABIO, A ;
PARENTI, G ;
TIPPETT, P ;
MONDELLO, C ;
DIMAIO, S ;
TENORE, A ;
ANDRIA, G .
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 [J].
BLEYER, WA ;
HAKAMI, N ;
SHEPARD, TH .
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 [J].
CHELLY, J ;
MARLHENS, F ;
DUTRILLAUX, B ;
VANOMMEN, GJ ;
LAMBERT, M ;
HAIOUN, B ;
BOISSINOT, G ;
FARDEAU, M ;
KAPLAN, JC .
HUMAN GENETICS, 1988, 78 (03) :222-227
1234567