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Title of Journal: Eur J Pediatr

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Abbravation: European Journal of Pediatrics

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Springer Berlin Heidelberg

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DOI

10.1007/s10546-011-9691-4

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1432-1076

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A late presenter and longterm survivor of alveola

Authors: Yukie Ito Takuma Akimoto Kazutoshi Cho Masafumi Yamada Mishie Tanino Tomoyuki Dobata Masanori Kitaichi Satoru Kumaki Yoshikazu Kinugawa
Publish Date: 2015/04/22
Volume: 174, Issue: 8, Pages: 1123-1126
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Abstract

This report demonstrates a late presenter and longterm survivor 38 months old of alveolar capillary dysplasia with misalignment of the pulmonary veins ACD/MPV and with a heterozygous frameshift mutation in FOXF1 The mild phenotype may be due to his residual normal lung tissue as demonstrated in the chest computed tomography CT and histopathological findings

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