Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Haploinsufficiency of FOXF1 causes an autosomal dominant neonatally lethal lung disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV). We identified novel 0.8-kb deletion within the 1.4-kb intron of FOXF1 in a deceased newborn diagnosed with ACDMPV. The deletion arose...

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Detalhes bibliográficos
Main Authors: Szafranski, Przemyslaw, Yang, Yaping, Nelson, Melissa U., Bizzarro, Matthew J., Morotti, Raffaella, Langston, Claire, Stankiewicz, Paweł
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4123314/
https://ncbi.nlm.nih.gov/pubmed/23943206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22395
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