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Title:

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Document type:
Article; Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shene...     »
Abstract:
De novo variants are a leading cause of neurodevelopmental disorders (NDDs), but because every monogenic NDD is different and usually extremely rare, it remains a major challenge to understand the complete phenotype and genotype spectrum of any morbid gene. According to OMIM, heterozygous variants in KDM6B cause "neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities." Here, by examining the molecular and clinical spectrum of 85 reported individuals with mostly de...     »
Journal title abbreviation:
Am J Hum Genet
Year:
2023
Journal volume:
110
Journal issue:
6
Pages contribution:
963-978
Fulltext / DOI:
doi:10.1016/j.ajhg.2023.04.008
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37196654
Print-ISSN:
0002-9297
TUM Institution:
183; 611; Institut für Humangenetik (Prof. Winkelmann)
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