A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype Journal Articles Refereed uri icon

Overview

Authors

  • Authorship

    • ALSTON CL
    • HARGREAVES IP
    • MONAVARI AA
    • KNERR I
    • MCCARTHY P
    • MORRIS AAM
    • PROF David Thorburn
    • PROKISCH H
    • CLAYTON PE
    • MCFARLAND R
    • HUGHES J
    • HOWARD C
    • CRUSHELL E
    • TAYLOR RW
    • OLAHOVA M
    • HARDY SA
    • HE L
    • MURRAY PG
    • O'SULLIVAN S
    • DOHERTY G
    • SHIELD JPH

Published in

  • Journal of Medical Genetics

Time

Date/time value

  • 2016

Identity

Digital Object Identifier (DOI)

  • 10.1136/jmedgenet-2015-103576

Additional Document Info

Parent Title

  • JOURNAL OF MEDICAL GENETICS

Volume

  • 53

Issue

  • 9

Publisher

  • BMJ Publishing Group