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Titel:

Connectome Analysis in an Individual with SETD1B -Related Neurodevelopmental Disorder and Epilepsy.

Dokumenttyp:
Case Reports; Journal Article
Autor(en):
Weng, Rosa; Nenning, Karl-Heinz; Schwarz, Michelle; Riedhammer, Korbinian M; Brunet, Theresa; Wagner, Matias; Kasprian, Gregor; Lehrner, Johann; Zimprich, Fritz; Bonelli, Silvia B; Krenn, Martin
Abstract:
OBJECTIVE: Causative variants in SETD1B , encoding a lysine-specific methyltransferase, have recently been associated with a neurodevelopmental phenotype encompassing intellectual disability, autistic features, pronounced language delay, and epilepsy. It has been noted that long-term and deep phenotype data are needed to further delineate this rare condition. METHODS: In this study, we provide an in-depth clinical characterization with long-term follow-up and trio exome sequencing findings to de...     »
Zeitschriftentitel:
J Dev Behav Pediatr
Jahr:
2022
Band / Volume:
43
Heft / Issue:
6
Seitenangaben Beitrag:
e419-e422
Volltext / DOI:
doi:10.1097/DBP.0000000000001079
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/35385430
Print-ISSN:
0196-206X
TUM Einrichtung:
Institut für Humangenetik; Professur für Nephrologie (Prof. Heemann)
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