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Titel:

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

Dokumenttyp:
Article; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
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...     »
Zeitschriftentitel:
Am J Hum Genet
Jahr:
2023
Band / Volume:
110
Heft / Issue:
6
Seitenangaben Beitrag:
963-978
Volltext / DOI:
doi:10.1016/j.ajhg.2023.04.008
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/37196654
Print-ISSN:
0002-9297
TUM Einrichtung:
183; 611; Institut für Humangenetik (Prof. Winkelmann)
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