HETEROGENEITY OF DYGGVE-MELCHIOR-CLAUSEN DWARFISM

被引:33
作者
SPRANGER, J
BIERBAUM, B
HERRMANN, J
机构
[1] UNIV MAINZ,CHILDRENS HOSP,KINDER KLIN,D-6500 MAINZ,FED REP GER
[2] UNIV WISCONSIN,HLTH SCI CTR,DEPT PEDIAT,MADISON,WI 53706
[3] UNIV WISCONSIN,SCH MED,MADISON,WI 53706
[4] UNIV WISCONSIN,WISCONSIN CLIN GENET CTR,DEPT MED GENET,MADISON,WI 53706
关键词
D O I
10.1007/BF00286853
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:279 / 287
页数:9
相关论文
共 16 条
[1]   CONCENTRICALLY LAMINATED MEMBRANOUS INCLUSIONS IN MYOFIBERS OF DYGGVE-MELCHIOR-CLAUSEN SYNDROME [J].
AFIFI, AK ;
DERKALOU.VM ;
BAHUTH, NB ;
MIRESALM.J .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1974, 21 (03) :335-340
[2]  
Barylak A, 1972, Aust Paediatr J, V8, P338
[3]   CHEMICAL AND ENZYMIC STUDIES OF A FAMILY WITH SKELETAL ABNORMALITIES ASSOCIATED WITH MENTAL RETARDATION [J].
CLAUSEN, J ;
DYGGVE, HV ;
MELCHIOR, JC .
CLINICA CHIMICA ACTA, 1970, 29 (02) :197-&
[4]  
DERKALOUSTIAN VM, 1975, COMMUNICATION
[5]   MORQUIO-ULLRICHS DISEASE - AN INBORN ERROR OF METABOLISM [J].
DYGGVE, HV ;
MELCHIOR, JC ;
CLAUSEN, J .
ARCHIVES OF DISEASE IN CHILDHOOD, 1962, 37 (195) :525-&
[6]  
FAUCELL MJ, 1942, ARCH NEUROL PSYCHIAT, V48, P456
[7]   RADIOLOGICAL CASE OF MONTH - MORQUIO-BRAILSFORD DISEASE [J].
GWINN, JL ;
BARNES, GR .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1968, 115 (03) :347-&
[8]  
HOBAEK A, 1961, PROBLEMS HEREDITARY, P64
[9]  
KAUFMAN R L, 1971, Birth Defects Original Article Series, V7, P144
[10]  
KOPITS SE, 1972, J BONE JOINT SURG AM, V54, P1349