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Title:

-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities.

Document type:
Journal Article
Author(s):
Zech, Michael; Poustka, Katharina; Boesch, Sylvia; Berutti, Riccardo; Strom, Tim M; Grisold, Wolfgang; Poewe, Werner; Winkelmann, Juliane
Abstract:
encodes a conserved transcription factor implicated in cell-fate decisions of the neural lineage. haploinsufficiency induced by larger genomic deletions has been linked to a recognizable pediatric syndrome combining developmental delay with intellectual disability, mild dysmorphism, inadequate behavior, and variable additional features including motor disturbances. In contrast to -involving deletions, examples of pathogenic small coding variations are sparse in the literature and have been de...     »
Journal title abbreviation:
Case Rep Genet
Year:
2017
Journal volume:
2017
Pages contribution:
2721615
Language:
eng
Fulltext / DOI:
doi:10.1155/2017/2721615
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/29214085
Print-ISSN:
2090-6544
TUM Institution:
Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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