ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

LB Williams, A Javed, A Sabri, DJ Morgan, CD Huff, JR Grigg, XT Heng, AJ Khng, Iris Hollink, M A Morrison, LA Owen, K Anderson, K Kinard, R Greenlees, D Novacic, HN Sen, WM Zein, GM Rodgers, AT Vitale, NB HaiderAM Hillmer, PC Ng, Shankaracharya, A Cheng, LD Zheng, MC Gillies, M van Slegtenhorst, P.M. van Hagen, T Missotten, GL Farley, M Polo, J Malatack, J Curtin, F Martin, S Arbuckle, SI Alexander, M Chircop, S Davila, KB Digre, RV Jamieson, MM DeAngelis

Research output: Contribution to journalArticleAcademicpeer-review

32 Citations (Scopus)
20 Downloads (Pure)
Original languageUndefined/Unknown
Pages (from-to)2103-2115
Number of pages13
JournalGenetics in Medicine
Issue number9
Publication statusPublished - 2019

Research programs

  • EMC MM-02-72-02

Cite this