Conference
ARMFIELD XLID SYNDROME HAS A DISTINCT PHENOTYPE (SHORT STATURE, SMALL HANDS/ FEET, OCULAR ANOMALIES, SEIZURES), RESULTS FROM MUTATIONS IN FAM50A, AND IS A SPLICEOSOMOPATHY
Authors
Schwartz CE; Lee YR; Khan K; Armfield-Uhas K; Norris JW; Gripp K; Aleck KA; Li C; Spence E; Moreland T
Volume
179
Pagination
pp. 711-711
Publisher
WILEY
Publication Date
April 1, 2019
Name of conference
39th Annual David W Smith Workshop on Malformations and Morphogenesis
Conference place
Banff, CANADA
Conference start date
August 24, 2018
Conference end date
August 29, 2018
Conference proceedings
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Issue
4
ISSN
1552-4825