A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction Journal Articles Refereed uri icon

Overview

Authors

  • Authorship

    • GOLD WA
    • PROF John Christodoulou
    • ADES LC
    • SOBREIRA N
    • WIAME E
    • MARBAIX A
    • VAN SCHAFTINGEN E
    • FRANZKA P
    • RILEY LG
    • WORGAN L
    • HUEBNER CA

Published in

  • American Journal of Medical Genetics. Part A

Time

Date/time value

  • 2017

Identity

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.38292

Additional Document Info

Parent Title

  • AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Volume

  • 173

Issue

  • 8

Publisher

  • John Wiley & Sons