Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. Journal Articles Refereed uri icon

Overview

Authors

  • Authorship

    • MCMILLAN HJ
    • ERASMUS CE
    • KOOLEN DA
    • HAAXMA CA
    • KEREN B
    • DOUMMAR D
    • MIGNOT C
    • THOMPSON I
    • VELSHER L
    • DEHGHANI M
    • VAHIDI MEHRJARDI MY
    • TELEGRAFI A
    • MAROOFIAN R
    • TCHAN M
    • SIMONS C
    • PROF John Christodoulou
    • MARTÍN-HERNÁNDEZ E
    • GUILLEN SACOTO MJ
    • HENDERSON LB
    • MCLAUGHLIN H
    • MOLDAY LL
    • MOLDAY RS
    • SINGLETON A
    • YOON G
    • CHO MT
    • LELLI D
    • LYNN FC
    • GRIFFIN J
    • ASAMOAH A
    • RINNE T

Published in

  • Orphanet Journal of Rare Diseases

Time

Date/time value

  • 2018

Identity

Digital Object Identifier (DOI)

  • 10.1186/s13023-018-0825-3

Additional Document Info

Parent Title

  • Orphanet J Rare Dis

Volume

  • 13

Issue

  • 1

Publisher

  • Biomed Central