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

Published

Conference Paper

Full Text

Duke Authors

Cited Authors

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

Published Date

  • April 1, 2019

Published In

Volume / Issue

  • 179 / 4

Start / End Page

  • 711 - 711

Published By

Pages

  • 1

Electronic International Standard Serial Number (EISSN)

  • 1552-4833

International Standard Serial Number (ISSN)

  • 1552-4825

Conference Name

  • 39th Annual David W Smith Workshop on Malformations and Morphogenesis

Conference Location

  • Banff, CANADA

Conference Start Date

  • August 24, 2018

Conference End Date

  • August 29, 2018