Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

Haploinsufficiency of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a lethal neonatal lung developmental disorder. We describe two similar heterozygous CNV deletions involving the FOXF1 enhancer and reanalyze FOXF1 missense mutation, all associated with an...

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Publicado no:Hum Genet
Main Authors: Szafranski, Przemyslaw, Liu, Qian, Karolak, Justyna A., Song, Xiaofei, de Leeuw, Nicole, Faas, Brigitte, Gerychova, Romana, Janku, Petr, Jezova, Marta, Valaskova, Iveta, Gibbs, Kathleen A., Surrey, Lea F., Poisson, Virginie, Bérubé, Denis, Oligny, Luc L., Michaud, Jacques L., Popek, Edwina, Stankiewicz, Paweł
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6874894/
https://ncbi.nlm.nih.gov/pubmed/31686214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-019-02073-x
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