ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Lloyd B WilliamsAsif JavedAmin SabriDenise J MorganChad D HuffJohn R GriggXiu Ting HengAlexis J KhngIris H I M HollinkMargaux A MorrisonLeah A OwenKatherine AndersonKrista KinardRebecca GreenleesDanica NovacicH Nida SenWadih M ZeinGeorge M RodgersAlbert T VitaleNeena B HaiderAxel M HillmerPauline C Ngnull ShankaracharyaAnson ChengLinda ZhengMark C GilliesMarjon van SlegtenhorstP Martin van HagenTom O A R MissottenGary L FarleyMichael PoloJames MalatackJulie CurtinFrank MartinSusan ArbuckleStephen I AlexanderMegan ChircopSonia DavilaKathleen B DigreRobyn V JamiesonMargaret M DeAngelisPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Heterozygosity for ALPK1, p.Thr237Met leads to ROSAH syndrome, an autosomal dominant ocular systemic disorder.
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