Faundes, Víctor ;
Goh, Stephanie ;
Akilapa, Rhoda...
Faundes , V , Goh , S , Akilapa , R , Bezuidenhout , H , Bjornsson , H T , Brady , A F , Brischoux-Boucher , E , Brunner , H , Bulk , S , Canham , N , Cody , D , Dentici , M L , Digilio , M C , Elmslie , F , Fry , A E , Gill , H , Hurst , J , Johnson , D , Julia , S , Lachlan , K , Lebel , R R , Byler , M , Gershon , E , Lemire , E , Gnazzo , M , Lepri , F R , Marchese , A , McEntagart , M , McGaughran , J , Mizuno , S , Okamoto , N , Rieubland , C , Sasaki , E , Scalais , E , Scurr , I , Suri , M , van der Burgt , I , Matsumoto , N , Miyake , N , Benoit , V , Lederer , D & Banka , S 2021 , ' Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 ' , Genetics in Medicine . https://doi.org/10.1038/s41436-021-01119-8.
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2021
