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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...
Gorde:
| Egile Nagusiak: | , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2013
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| Gaiak: | |
| Sarrera elektronikoa: | 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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