Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function Journal Articles Refereed uri icon

Overview

Authors

  • Authorship

    • REHMAN AU
    • HUNTER JV
    • BAKEY Z
    • TOKITA MJ
    • HE W
    • VETRINI F
    • PETERSEN A
    • SANTONI FA
    • HAMAMY H
    • WU K
    • AL-JASMI F
    • NAJAFI M
    • HELMSTAEDTER M
    • ARNOLD SJ
    • XIA F
    • RICHMOND C
    • LIU P
    • KARIMIANI EG
    • MADANI GK
    • DR Sebastian Lunke
    • EL-SHANTI H
    • ENG CM
    • KAMBOURIS M
    • ANTONARAKIS SE
    • HERTECANT J
    • WALKIEWICZ M
    • YANG Y
    • SCHMIDTS M
    • AL-GAZALI L
    • MAKRYTHANASIS P
    • RAD A
    • MAROOFIAN R
    • RAJAB A
    • DR Zornitza Stark

Published in

  • Human Mutation

Time

Date/time value

  • 2019

Identity

Digital Object Identifier (DOI)

  • 10.1002/humu.23694

Additional Document Info

Parent Title

  • HUMAN MUTATION

Volume

  • 40

Issue

  • 3

Publisher

  • Wiley-Liss