Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders



Szot, Justin O. and Campagnolo, Carla and Cao, Ye and Iyer, Kavitha R. and Cuny, Hartmut and Drysdale, Thomas and Flores-Daboub, Josue A. and Bi, Weimin and Westerfield, Lauren and Liu, Pengfei and Leung, Tse Ngong and Choy, Kwong Wai and Chapman, Gavin and Xiao, Rui and Siu, Victoria M. and Dunwoodie, Sally L. (2020) Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. The American Journal of Human Genetics, 106 (1). pp.129-136. ISSN 00029297

Link to published document: http://doi.org/10.1016/j.ajhg.2019.12.006

Abstract

Metadata

Subjects: R Medicine > R Medicine (General)
Depositing User: Repository Administrator
Date Deposited: 23 Jan 2020 04:21
Last Modified: 23 Jan 2020 04:21