Enne või pärast ettenähtud aega sisse- või väljaregistreerivatelt külalistelt võidakse küsida lisatasu. Meelerahu huvides saad lennujaama transfeeri ette broneerida, makstes kõigest ZAR. Nende külaliste jaoks, kes eelistavad sõita oma autoga, pakub Radisson Blu Hotel Sandton Johannesburg parkimisvõimalust. Vastuvõtt on alati avatud — nii päeval kui ka öösel. Copyright © The Authors.

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Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 TLK2 in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations.

Analysis of cell lines from three affected individuals showed that mutations act through a loss-of-function mechanism in at least two case subjects.

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Genotype-phenotype analysis and comparison of computationally modeled faces showed that phenotypes of these and other individuals with loss-of-function variants significantly overlapped with phenotypes of individuals with other variant types missense and C-terminal truncating. This suggests that haploinsufficiency of TLK2 is the most likely underlying disease mechanism, leading to a consistent neurodevelopmental phenotype.

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This work illustrates the power of international data sharing, by the identification of 40 individuals from 26 different centers in 7 different countries, allowing the identification, clinical delineation, and genotype-phenotype evaluation of a distinct NDD caused by mutations in TLK2. Copyright © The Authors.

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Published by Elsevier Inc. All rights reserved.