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

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

AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2019)

引用 0|浏览39
暂无评分
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要