Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

PURPOSE: This study aimed to delineate the genetic basis of congenital ocular motor apraxia (COMA) in patients not otherwise classifiable. METHODS: We compiled clinical and neuroimaging data of individuals from six unrelated families with distinct clinical features of COMA who do not share common di...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genet Med
Prif Awduron: Schröder, Simone, Li, Yun, Yigit, Gökhan, Altmüller, Janine, Bader, Ingrid, Bevot, Andrea, Biskup, Saskia, Dreha-Kulaczewski, Steffi, Christoph Korenke, G., Kottke, Raimund, Mayr, Johannes A., Preisel, Martin, Toelle, Sandra P., Wente-Schulz, Sarah, Wortmann, Saskia B., Hahn, Heidi, Boltshauser, Eugen, Uhmann, Anja, Wollnik, Bernd, Brockmann, Knut
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group US 2020
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7862056/
https://ncbi.nlm.nih.gov/pubmed/33024317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-00979-w
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg