PURA syndrome

Selected Full-Text Journal Articles

PURA syndrome - articles

Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M, DDD study, Magee AC, Turnpenny PD, Baralle D.Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability J Med Genet. 2014 Dec; 51(12):806-13.

Last updated on 04-27-20

Name: PURA Syndrome Foundation United States Email: k.hildring@pura-syndrome.org Url: https://www.purasyndrome.org/ Facebook: https://www.facebook.com/PURASyndrome/

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