Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

BACKGROUND: Point mutations or genomic deletions of FOXF1 result in a lethal developmental lung disease Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. However, the clinical consequences of the constitutively increased dosage of FOXF1 are unknown. METHODS: Copy-number variations a...

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Publicat a:BMC Med Genet
Autors principals: Dharmadhikari, Avinash V, Gambin, Tomasz, Szafranski, Przemyslaw, Cao, Wenjian, Probst, Frank J, Jin, Weihong, Fang, Ping, Gogolewski, Krzysztof, Gambin, Anna, George-Abraham, Jaya K, Golla, Sailaja, Boidein, Francoise, Duban-Bedu, Benedicte, Delobel, Bruno, Andrieux, Joris, Becker, Kerstin, Holinski-Feder, Elke, Cheung, Sau Wai, Stankiewicz, Pawel
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4411736/
https://ncbi.nlm.nih.gov/pubmed/25472632
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-014-0128-z
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