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Title:

Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders.

Document type:
Article; Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Pavelekova, P; Necpal, J; Jech, R; Havrankova, P; Svantnerova, J; Jurkova, V; Gdovinova, Z; Lackova, A; Han, V; Winkelmann, J; Zech, M; Skorvanek, M
Abstract:
INTRODUCTION: Cerebral palsy (CP) is a group of permanent disorders attributed to non-progressive disturbances that occurred in the developing fetal or infant brain. Cerebral palsy-like (CP-like) disorders may clinically resemble CP but do not fulfill CP criteria and have often a progressive course and/or neurodevelopmental regression. To assess which patients with dystonic CP and dystonic CP-like disorder should undergo Whole Exome Sequencing (WES), we compared the rate of likely causative vari...     »
Journal title abbreviation:
Parkinsonism Relat Disord
Year:
2023
Journal volume:
111
Fulltext / DOI:
doi:10.1016/j.parkreldis.2023.105352
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/36997436
Print-ISSN:
1353-8020
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann)
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