Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.

被引:0
|
作者
Andersson, HC
Kratz, LC
Kelley, RI
机构
[1] Tulane Med Ctr, Human Genet Program, Hayward Gen Ctr, New Orleans, LA USA
[2] Kennedy Krieger Inst, Baltimore, MD USA
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
131
引用
收藏
页码:36 / 36
页数:1
相关论文
共 50 条
  • [21] 9QH-ASSOCIATED WITH DEVELOPMENTAL RETARDATION AND MULTIPLE CONGENITAL ANOMALIES
    SALINAS, CF
    PFISTER, AJ
    TAYLOR, AB
    LORENZO, RL
    JORGENSON, RJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1977, 29 (06) : A94 - A94
  • [22] PREPUBERTAL XX MALE WITH PROFOUND PHYSICAL AND MENTAL DEFICIENCY, RETINITIS PIGMENTOSA AND MULTIPLE CONGENITAL ANOMALIES
    PESCIA, G
    SPAHR, A
    GENTON, N
    JUILLARD, E
    HELVETICA PAEDIATRICA ACTA, 1978, 33 (01) : 63 - 72
  • [23] Lead levels in children with developmental delay. A hospital-based study
    Masri, Amira T.
    Badran, Eman F.
    Saleem, Mohammad M.
    Al-Qudah, Abdelkarim A.
    NEUROSCIENCES, 2009, 14 (03) : 302 - 303
  • [24] A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects
    Shimojima, Keiko
    Okamoto, Nobuhiko
    Yamamoto, Toshiyuki
    CONGENITAL ANOMALIES, 2018, 58 (01) : 36 - 38
  • [25] A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies
    Ruiyu Ma
    Linbei Deng
    Yan Xia
    Xianda Wei
    Yingxi Cao
    Ruolan Guo
    Rui Zhang
    Jing Guo
    Desheng Liang
    Lingqian Wu
    Scientific Reports, 7
  • [26] Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker
    Oldak, M
    Waligora, J
    Gieruszczak-Bialek, D
    Skorka, A
    Bocian, E
    Brycz-Witkowska, J
    Stankiewicz, P
    Korniszewski, L
    GENETIC COUNSELING, 2006, 17 (01): : 29 - 34
  • [27] ANESTHESIA FOR COMPLEX CONGENITAL-ANOMALIES - PROFOUND HYPOTHERMIA
    STEWARD, DJ
    CLEVELAND CLINIC QUARTERLY, 1981, 48 (01): : 166 - 171
  • [28] A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies
    Ma, Ruiyu
    Deng, Linbei
    Xia, Yan
    Wei, Xianda
    Cao, Yingxi
    Guo, Ruolan
    Zhang, Rui
    Guo, Jing
    Liang, Desheng
    Wu, Lingqian
    SCIENTIFIC REPORTS, 2017, 7
  • [29] MULTIPLE CONGENITAL ANOMALIES
    BOGGIE, A
    CANADIAN MEDICAL ASSOCIATION JOURNAL, 1972, 107 (03) : 229 - &
  • [30] MULTIPLE CONGENITAL ANOMALIES
    WALKER, FA
    CANADIAN MEDICAL ASSOCIATION JOURNAL, 1972, 107 (10) : 942 - +