Article
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Human mutation - 1 Jun 2013
Sen Partha, Yang Yaping, Navarro Colby, Silva Iris, Szafranski Przemyslaw, Kolodziejska Katarzyna E, Dharmadhikari Avinash V, Mostafa Hasnaa, Kozakewich Harry, Kearney Debra, Cahill John B, Whitt Merrissa, Bilic Masha, Margraf Linda, Charles Adrian, Goldblatt Jack, Gibson Kathleen, Lantz Patrick E, Garvin A Julian, Petty John, Kiblawi Zeina, Zuppan Craig, McConkie-Rosell Allyn, McDonald Marie T, Peterson-Carmichael Stacey L, Gaede Jane T, Shivanna Binoy, Schady Deborah, Friedlich Philippe S, Hays Stephen R, Palafoll Irene Valenzuela, Siebers-Renelt Ulrike, Bohring Axel, Finn Laura S, Siebert Joseph R, Galambos Csaba, Nguyen Lananh, Riley Melissa, Chassaing Nicolas, Vigouroux Adeline, Rocha Gustavo, Fernandes Susana, Brumbaugh Jane, Roberts Kari, Ho-Ming Luk, Lo Ivan F M, Lam Stephen, Gerychova Romana, Jezova Marta, Valaskova Iveta, Fellmann Florence, Afshar Katayoun, Giannoni Eric, Muhlethaler Vincent, Liang Jinlong, Beckmann Jacques S, Lioy Janet, Deshmukh Hitesh, Srinivasan Lakshmi, Swarr Daniel T, Sloman Melissa, Shaw-Smith Charles, van Loon Rosa Laura, Hagman Cecilia, Sznajer Yves, Barrea Catherine, Galant Christine, Detaille Thierry, Wambach Jennifer A, Cole F Sessions, Hamvas Aaron, Prince Lawrence S, Diderich Karin E M, Brooks Alice S, Verdijk Robert M, Ravindranathan Hari, Sugo Ella, Mowat David, Baker Michael L, Langston Claire, Welty Stephen, Stankiewicz Pawel
Abstract excerpt
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological...
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