De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

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Reijnders , M R F , Miller , KA , Alvi , M , Goos , J , Lees , MM , de Burca , A , Henderson , A , Kraus , A , Mikat , B , de Vries , BBA , Isidor , B , Kerr , B , Marcelis , C , Schluth-Bolard , C , Deshpande , C , Ruivenkamp , CAL , Wieczorek , D , Baralle , D , Blair , EM , Engels , H , Ludecke , HJ , Eason , J , Santen , GWE , Clayton-Smith , J , Chandler , K , Tatton-Brown , K , Payne , K , Helbig , K , Radtke , K , Nugent , KM , Cremer , K , Strom , TM , Bird , LM , Sinnema , M , Bitner-Glindzicz , M , van Dooren , M , Alders , M , Koopmans , M , Brick , L , Kozenko , M , Harline , ML , Klaassens , M , Steinraths , M , Cooper , NS , Edery , P , Yap , P , Terhal , PA , van der Spek , P , Lakeman , P , Taylor , RL , Littlejohn , RO , Pfundt , R , Mercimek-Andrews , S , Stegmann , APA , Kant , SG , McLean , S , Joss , S , Swagemakers , S , Douzgou , S , Wall , SA , Kury , S , Calpena , E , Koelling , N , McGowan , SJ , Twigg , SRF , Mathijssen , I , Nellaker , C , Brunner , HG & Wilkie , AOM 2018 , ' De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder ' , American Journal of Human Genetics , vol. 102 , no. 6 , pp. 1195-1203 .

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edsoai.on1313623452

Document Type :

Electronic Resource