A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Published

Journal Article (Academic article)

Full Text

Duke Authors

Cited Authors

  • Schoch, K; Meng, L; Szelinger, S; Bearden, DR; Stray-Pedersen, A; Busk, OL; Stong, N; Liston, E; Cohn, RD; Scaglia, F; Rosenfeld, JA; Tarpinian, J; Skraban, CM; Deardorff, MA; Friedman, JN; Akdemir, ZC; Walley, N; Mikati, MA; Kranz, PG; Jasien, J; McConkie-Rosell, A; McDonald, M; Wechsler, SB; Freemark, M; Kansagra, S; Freedman, S; Bali, D; Millan, F; Bale, S; Nelson, SF; Lee, H; Dorrani, N; Goldstein, DB; Xiao, R; Yang, Y; Posey, JE; Martinez-Agosto, JA; Lupski, JR; Wangler, MF; Shashi, V

Published Date

  • February 2, 2017

Published In

Volume / Issue

  • 100 / 2

Start / End Page

  • 343 - 351

Published By

Pages

  • 9

Electronic International Standard Serial Number (EISSN)

  • 1537-6605

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1016/j.ajhg.2016.12.013

Language

  • English