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
[31]   A FAMILIAL X/Y TRANSLOCATION IN A BOY WITH ICHTHYOSIS, HYPOGONADISM AND MENTAL-RETARDATION [J].
METAXOTOU, C ;
IKKOS, D ;
PANAGIOTOPOULOU, P ;
ALEVIZAKI, M ;
MAVROU, A ;
TSENGHI, C ;
MATSANIOTIS, N .
CLINICAL GENETICS, 1983, 24 (05) :380-383
[32]   REGIONAL ASSIGNMENT OF THE STEROID SULFATASE-X-LINKED ICHTHYOSIS LOCUS - IMPLICATIONS FOR A NON-INACTIVATED REGION ON THE SHORT ARM OF HUMAN X-CHROMOSOME [J].
MOHANDAS, T ;
SHAPIRO, LJ ;
SPARKES, RS ;
SPARKES, MC .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1979, 76 (11) :5779-5783
[33]   GENETIC-HETEROGENEITY OF THE ICHTHYOSIS, HYPOGONADISM, MENTAL-RETARDATION, AND EPILEPSY SYNDROME - CLINICAL AND BIOCHEMICAL INVESTIGATIONS ON 2 PATIENTS WITH RUD SYNDROME AND REVIEW OF THE LITERATURE [J].
MUNKE, M ;
KRUSE, K ;
GOOS, M ;
ROPERS, HH ;
TOLKSDORF, M .
EUROPEAN JOURNAL OF PEDIATRICS, 1983, 141 (01) :8-13
[34]  
NOWAKOWSKI H, 1961, RECENT PROG HORM RES, V17, P53
[35]   X-LINKED OCULAR ALBINISM - OCULOCUTANEOUS MACRO-MELANOSOMAL DISORDER [J].
ODONNELL, FE ;
HAMBRICK, GW ;
GREEN, WR ;
ILIFF, WJ ;
STONE, DL .
ARCHIVES OF OPHTHALMOLOGY, 1976, 94 (11) :1883-1892
[36]   HEREDITARY TRANSMISSION OF EXCEPTIONAL RESISTANCE TO COUMARIN ANTICOAGULANT DRUGS - FIRST REPORTED KINDRED [J].
OREILLY, RA ;
LEONG, LS ;
HOAG, MS ;
AGGELER, PM ;
KROPATKIN, ML .
NEW ENGLAND JOURNAL OF MEDICINE, 1964, 271 (16) :809-+
[39]   STUDIES ON CROSS-REACTING MATERIAL TO STEROID SULFATASE IN FIBROBLASTS FROM PATIENTS AFFECTED BY DIFFERENT TYPES OF STEROID SULFATASE DEFICIENCY [J].
PARENTI, G ;
BALLABIO, A ;
HOOGEVEEN, AT ;
VANDERLOOS, CM ;
JOBSIS, AC ;
ANDRIA, G .
JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 (03) :224-228
[40]  
PARENTI G, 1985, PERSPECT INHERITED M, V6, P125