SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

The SLC12 gene family consists of SLC12A1–SLC12A9, encoding electroneutral cation-coupled chloride co-transporters. SCL12A2 has been shown to play a role in corticogenesis and therefore represents a strong candidate neurodevelopmental disorder gene. Through trio exome sequencing we identified de nov...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Brain
Päätekijät: McNeill, Alisdair, Iovino, Emanuela, Mansard, Luke, Vache, Christel, Baux, David, Bedoukian, Emma, Cox, Helen, Dean, John, Goudie, David, Kumar, Ajith, Newbury-Ecob, Ruth, Fallerini, Chiara, Renieri, Alessandra, Lopergolo, Diego, Mari, Francesca, Blanchet, Catherine, Willems, Marjolaine, Roux, Anne-Francoise, Pippucci, Tommaso, Delpire, Eric
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2020
Aiheet:
Reports
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7447514/
https://ncbi.nlm.nih.gov/pubmed/32658972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awaa176
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