ARMFIELD XLID SYNDROME HAS A DISTINCT PHENOTYPE (SHORT STATURE, SMALL HANDS/ FEET, OCULAR ANOMALIES, SEIZURES), RESULTS FROM MUTATIONS IN FAM50A, AND IS A SPLICEOSOMOPATHY

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• 来源
  《American journal of medical genetics, Part A》 |2019年第4期|共1页
• 作者

  Schwartz C. E.; Lee Y. R.; Khan K.; Armfield-Uhas K.; Norris J. W.; Gripp K.; Aleck K. A.; Li C.; Spence E.; Moreland T.; Skinner C.; Stevenson R. E.; Kim C. H.; Davis E. E.;

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• 作者单位

  Greenwood Genet Ctr Greenwood SC 29646 USA;

  Chungnam Natl Univ Dept Biol Daejeon South Korea;

  Duke Univ Med Ctr Ctr Human Dis Modeling Durham NC USA;

  Scottish Rite Childrens Healthcare Atlanta Atlanta GA USA;

  Greenwood Genet Ctr Greenwood SC 29646 USA;

  Alfred I DuPont Hosp Children Div Med Genet Wilmington DE USA;

  Phoenix Childrens Med Grp Genet &

  Metab Phoenix AZ USA;

  McMaster Univ Clin Genet Program Med Ctr Hamilton ON Canada;

  Univ N Carolina Sch Med Div Pediat Genet &

  Metab Chapel Hill NC 27515 USA;

  Greenwood Genet Ctr Greenwood SC 29646 USA;

  Greenwood Genet Ctr Greenwood SC 29646 USA;

  Greenwood Genet Ctr Greenwood SC 29646 USA;

  Chungnam Natl Univ Dept Biol Daejeon South Korea;

  Duke Univ Med Ctr Ctr Human Dis Modeling Durham NC USA;

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• 原文格式 PDF
• 正文语种 eng
• 中图分类 医学遗传学;
• 关键词