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Titel:

ARF1-related disorder: phenotypic and molecular spectrum.

Dokumenttyp:
Article; Journal Article
Autor(en):
de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan S; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L; Bryant, Emily M; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M; Friedman, Jennifer R; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu,...     »
Abstract:
PURPOSE: ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic and genotypic spectrum of ARF1-related neurodevelopmental disorder. METHODS: We collected detailed phenotypes of an international cohort of individuals (n=17) with ARF1 variants assembled through the GeneMatcher platform. Missense variants were st...     »
Zeitschriftentitel:
J Med Genet
Jahr:
2023
Band / Volume:
60
Heft / Issue:
10
Seitenangaben Beitrag:
999-1005
Volltext / DOI:
doi:10.1136/jmg-2022-108803
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/37185208
Print-ISSN:
0022-2593
TUM Einrichtung:
611; Institut für Humangenetik (Prof. Winkelmann)
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