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

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authors

  • Schwartz, CE
  • Lee, YR
  • Khan, K
  • Armfield-Uhas, K
  • Norris, JW
  • Gripp, K
  • Aleck, KA
  • Li, Chumei
  • Spence, E
  • Moreland, T
  • Skinner, C
  • Stevenson, RE
  • Kim, CH
  • Davis, EE

publication date

  • April 1, 2019