CONGENITAL UNIVERSAL MUSCULAR HYPOPLASIA - EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE

被引:0
|
作者
PELIAS, MZ
THURMON, TF
机构
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:548 / 554
页数:7
相关论文
共 50 条
  • [1] CONGENITAL HYPERINSULINISM - EVIDENCE OF AUTOSOMAL RECESSIVE INHERITANCE
    THORNTON, PS
    SUMNER, A
    RUCHELLI, E
    SPIELMAN, RS
    BAKER, L
    STANLEY, CA
    PEDIATRIC RESEARCH, 1991, 29 (04) : A199 - A199
  • [2] CYTOMEGALIC TYPE OF CONGENITAL ADRENAL HYPOPLASIA DUE TO AUTOSOMAL RECESSIVE INHERITANCE
    KRUGER, G
    MIX, M
    PELZ, L
    DUNKER, H
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (04): : 475 - 475
  • [3] Evidence for autosomal recessive inheritance in the infantile spinal muscular atrophy variant with congenital fractures.
    Courtens, W
    Johansson, A
    Dachy, B
    Avni, F
    Telerman-Toppet, N
    Scheffer, H
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 254 - 255
  • [4] AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR HYPOPLASIA
    WICHMAN, A
    FRANK, LM
    KELLY, TE
    CLINICAL GENETICS, 1985, 27 (04) : 373 - 382
  • [5] CONGENITAL UNIVERSAL MUSCULAR HYPOPLASIA
    SCHREIER, K
    HUPERZ, R
    ANNALES PAEDIATRICI, 1956, 186 (04): : 241 - 248
  • [6] CONGENITAL UNIVERSAL MUSCULAR HYPOPLASIA
    MULLER, J
    DEMYER, WE
    AMERICAN JOURNAL OF PATHOLOGY, 1972, 66 (03): : A11 - &
  • [7] Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance
    Courtens, W
    Johansson, AB
    Dachy, B
    Avni, F
    Telerman-Toppet, N
    Scheffer, H
    JOURNAL OF MEDICAL GENETICS, 2002, 39 (01) : 74 - 77
  • [8] NESIDIOBLASTOSIS - EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE
    WOOLF, DA
    LEONARD, JV
    TREMBATH, RC
    PEMBREY, ME
    GRANT, DB
    ARCHIVES OF DISEASE IN CHILDHOOD, 1991, 66 (04) : 529 - 530
  • [9] DISTAL MUSCULAR-DYSTROPHY WITH AUTOSOMAL RECESSIVE INHERITANCE
    SCOPPETTA, C
    VACCARIO, ML
    CASALI, C
    DITRAPANI, G
    MENNUNI, G
    MUSCLE & NERVE, 1984, 7 (06) : 478 - 481
  • [10] DUCHENNE LIKE MUSCULAR-DYSTROPHY IN 2 SISTERS - EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE
    SOMER, H
    SALMINEN, A
    KNUUTILA, S
    KAITILA, I
    ACTA NEUROLOGICA SCANDINAVICA, 1984, 69 : 206 - 207