A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia-Reference-Cited by-同舟云学术

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A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia

Published:2015-01-28 Issue:2 Volume:35 Page:155-157
ISSN:0743-8346
Container-title:Journal of Perinatology
language:en
Short-container-title:J Perinatol

Author:

Geddes G C,Dimmock D P,Hehir D A,Helbling D C,Kirkpatrick E,Loomba R,Southern J,Waknitz M,Scharer G,Konduri G G

Publisher

Springer Science and Business Media LLC

Subject

Obstetrics and Gynaecology,Pediatrics, Perinatology, and Child Health

Link

http://www.nature.com/articles/jp2014187.pdf

Reference9 articles.

1. Bishop NB, Stankiewicz P, Steinhorn RH . Alveolar capillary dysplasia. Am J Respir Crit Care Med 2011; 184: 172–179.

2. Galambos C, Sims-Lucas S, Abman SH . Three-dimensional reconstruction identifies misaligned pulmonary veins as intrapulmonary shunt vessels in alveolar capillary dysplasia. J Pediatr 2014; 164 (1): 192–195.

3. Sen P, Thakur N, Stockton DW, Langston C, Bejani BA . Expanding the phenotype of alveolar capillary dysplasia (ACD). J Pediatr 2004; 145: 646–651.

4. Boggs S, Harris MC, Hoffman DJ, Goel R, McDonald-McGinn D, Langston C et al. Misalignment of pulmonary veins with alveolar capillary dysplasia: Affected siblings and variable phenotypic expression. J Pediatr 1994; 124: 125–128.

5. Yu S, Shao L, Killbride H, Zwick L . Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. Am J Med Genet 2010; 152A: 1257–1262.

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4. A NovelDe NovoPathogenic Variant inFOXF1in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins;Yonsei Medical Journal;2017

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