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Titel:

Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.

Dokumenttyp:
Article; Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Dzinovic, Ivana; Škorvánek, Matej; Pavelekova, Petra; Zhao, Chen; Keren, Boris; Whalen, Sandra; Bakhtiari, Somayeh; Chih Jin, Sheng; Kruer, Michael C; Jech, Robert; Winkelmann, Juliane; Zech, Michael
Abstract:
The role of genetics in the causation of cerebral palsy has become the focus of many studies aiming to unravel the heterogeneous etiology behind this frequent neurodevelopmental disorder. A recent paper reported two unrelated children with a clinical diagnosis of cerebral palsy, who carried the same de novo c.1000G > A (p.Asp334Asn) variant in FBXO31, encoding a widely studied tumor suppressor not previously implicated in monogenic disease. We now identified a third individual with the recurrent...     »
Zeitschriftentitel:
Ann Clin Transl Neurol
Jahr:
2021
Band / Volume:
8
Heft / Issue:
4
Seitenangaben Beitrag:
951-955
Volltext / DOI:
doi:10.1002/acn3.51335
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33675180
TUM Einrichtung:
Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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