Journal
Molecular Genetics and Metabolism
Publication Date
5-1-2022
Volume
136
Issue
1
First Page
65
Last Page
73
Document Type
Open Access Publication
DOI
10.1016/j.ymgme.2022.03.007
Rights and Permissions
Fielder SM, Rosenfeld JA, Burrage LC, Emrick L, Lalani S, Attali R, Bembenek JN, Hoang H, Baldridge D, Silverman GA; Undiagnosed Diseases Network; Schedl T, Pak SC. Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay. Mol Genet Metab. 2022 May;136(1):65-73. doi: 10.1016/j.ymgme.2022.03.007. © 2022 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Recommended Citation
Fielder, Sara M; Rosenfeld, Jill A; Burrage, Lindsay C; Emrick, Lisa; Lalani, Seema; Attali, Ruben; Bembenek, Joshua N; Hoang, Hieu; Baldridge, Dustin; Silverman, Gary A; Undiagnosed Diseases Network; Schedl, Tim; and Pak, Stephen C, "Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay." Molecular Genetics and Metabolism. 136, 1. 65 - 73. (2022).
https://digitalcommons.wustl.edu/oa_4/1433
Department
ICTS (Institute of Clinical and Translational Sciences)
Additional Links
Supplemental material is available for this article at publisher site.
