A FAMILY WITH THE COFFIN LOWRY SYNDROME REVISITED - LOCALIZATION OF CLS TO XP21-PTER

被引:37
作者
PARTINGTON, MW
MULLEY, JC
SUTHERLAND, GR
THODE, A
TURNER, G
机构
[1] PRINCE WALES CHILDRENS HOSP,DEPT MED GENET,RANDWICK,NSW,AUSTRALIA
[2] ADELAIDE CHILDRENS HOSP,N ADELAIDE,SA 5006,AUSTRALIA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1988年 / 30卷 / 1-2期
关键词
D O I
10.1002/ajmg.1320300153
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:509 / 521
页数:13
相关论文
共 10 条
[1]   MENTAL RETARDATION WITH OSTEOCARTILAGINOUS ANOMALIES [J].
COFFIN, GS ;
SIRIS, E ;
WEGIENKA, LC .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1966, 112 (03) :205-&
[2]  
DAVIES KE, 1988, IN PRESS CYTOGENETIC
[3]  
HUNTER AGW, 1982, CLIN GENET, V21, P321
[4]   NEW DOMINANT GENE MENTAL RETARDATION SYNDROME - ASSOCIATION WITH SMALL STATURE, TAPERING FINGERS, CHARACTERISTIC FACIES, AND POSSIBLE HYDROCEPHALUS [J].
LOWRY, B ;
MILLER, JR ;
FRASER, FC .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1971, 121 (06) :496-&
[5]  
MCKUSICK VA, 1986, MENDELIAN INHERITANC, P1338
[6]   LINKAGE AND GENETIC-COUNSELING FOR THE FRAGILE-X USING DNA PROBE-52A, PROBE-F9, PROBE-DX13, AND PROBE-ST14 [J].
MULLEY, JC ;
GEDEON, AK ;
THORN, KA ;
BATES, LJ ;
SUTHERLAND, GR .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (02) :435-448
[7]  
OTT J, 1974, AM J HUM GENET, V26, P588
[8]   MENTAL-RETARDATION, ABNORMAL FINGERS, AND SKELETAL ANOMALIES - COFFINS SYNDROME [J].
PROCOPIS, PG ;
TURNER, B .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1972, 124 (02) :258-&
[9]   COFFIN-LOWRY SYNDROME - INHERITED FACIODIGITAL MENTAL-RETARDATION SYNDROME [J].
TEMTAMY, SA ;
MILLER, JD ;
HUSSELSMAUMENEE, I .
JOURNAL OF PEDIATRICS, 1975, 86 (05) :724-731
[10]   REPORT OF THE COMMITTEE ON HUMAN-GENE MAPPING BY RECOMBINANT DNA TECHNIQUES [J].
WILLARD, HF ;
SKOLNICK, MH ;
PEARSON, PL ;
MANDEL, JL .
CYTOGENETICS AND CELL GENETICS, 1985, 40 (1-4) :360-489