COL4A1-related autosomal recessive encephalopathy in 2 Turkish children

OBJECTIVE: This study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. METHODS: Whole-exome sequencing and bioinformatic analysis of consanguineous families with children af...

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Détails bibliographiques
Publié dans:Neurol Genet
Auteurs principaux: Yaramis, Ahmet, Lochmüller, Hanns, Töpf, Ana, Sonmezler, Ece, Yilmaz, Elmasnur, Hiz, Semra, Yis, Uluc, Gungor, Serdal, Ipek Polat, Ayse, Edem, Pinar, Beltran, Sergi, Laurie, Steven, Yaramis, *Aysenur, Horvath, Rita, Oktay, Yavuz
Format: Artigo
Langue:Inglês
Publié: Wolters Kluwer 2020
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6975172/
https://ncbi.nlm.nih.gov/pubmed/32042920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000392
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