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

Details

Database :

OAIster

Journal :

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 .

Notes :

application/pdf, und

Publication Type :

Electronic Resource

Accession number :

edsoai.on1313626574

Document Type :

Electronic Resource