Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

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Authors: Atteeq U. Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al Gazali, Periklis Makrythanasis, Abolfazl Rad, Reza Maroofian, Anna Rajab, Zornitza Stark, Jill V. Hunter, Zeineb Bakey, Mari J. Tokita, Weimin He, Francesco Vetrini, Andrea Petersen, Federico A. Santoni, Hanan Hamamy, Kaman Wu, Fatma Al Jasmi, Martin Helmstädter, Sebastian J. Arnold, Fan Xia, Christopher Richmond, Pengfei Liu, Ehsan Gha

Journal title: Human Mutation

Journal publisher: John Wiley & Sons Inc.

Published year: 2018

DOI identifier: 10.1002/humu.23694

ISSN: 1059-7794