Williams, LB ;
Javed, A ;
Sabri, A...
Williams , LB , Javed , A , Sabri , A , Morgan , DJ , Huff , CD , Grigg , JR , Heng , XT , Khng , AJ , Hollink , I , Morrison , M A , Owen , LA , Anderson , K , Kinard , K , Greenlees , R , Novacic , D , Sen , HN , Zein , WM , Rodgers , GM , Vitale , AT , Haider , NB , Hillmer , AM , Ng , PC , Shankaracharya , Cheng , A , Zheng , LD , Gillies , MC , van Slegtenhorst , M , van Hagen , P M , Missotten , T , Farley , GL , Polo , M , Malatack , J , Curtin , J , Martin , F , Arbuckle , S , Alexander , SI , Chircop , M , Davila , S , Digre , KB , Jamieson , RV & DeAngelis , MM 2019 , ' ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder ' , Genetics in Medicine , vol. 21 , no. 9 , pp. 2103-2115 . https://doi.org/10.1038/s41436-019-0476-3.
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2019
