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Titel:

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

Dokumenttyp:
Article; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Reijnders, Margot R F; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline A C; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B A; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A L; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W E; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn...     »
Abstract:
Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). 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. Affected individuals had a consistent phenotype, characterized by mi...     »
Zeitschriftentitel:
Am J Hum Genet
Jahr:
2018
Band / Volume:
102
Heft / Issue:
6
Seitenangaben Beitrag:
1195-1203
Volltext / DOI:
doi:10.1016/j.ajhg.2018.04.014
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/29861108
Print-ISSN:
0002-9297
TUM Einrichtung:
Institut für Humangenetik
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