Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, neonatally lethal developmental disorder of the lung with defining histologic abnormalities typically associated with multiple congenital anomalies (MCA). Using array CGH analysis, we have identified six overlappi...

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Detalles Bibliográficos
Autores principales: Stankiewicz, Paweł, Sen, Partha, Bhatt, Samarth S., Storer, Mekayla, Xia, Zhilian, Bejjani, Bassem A., Ou, Zhishuo, Wiszniewska, Joanna, Driscoll, Daniel J., Bolivar, Juan, Bauer, Mislen, Zackai, Elaine H., McDonald-McGinn, Donna, Nowaczyk, Małgorzata M.J., Murray, Mitzi, Shaikh, Tamim H., Martin, Vicki, Tyreman, Matthew, Simonic, Ingrid, Willatt, Lionel, Paterson, Joan, Mehta, Sarju, Rajan, Diana, Fitzgerald, Tomas, Gribble, Susan, Prigmore, Elena, Patel, Ankita, Shaffer, Lisa G., Carter, Nigel P., Cheung, Sau Wai, Langston, Claire, Shaw-Smith, Charles
Formato: Texto
Lenguaje:English
Publicado: Elsevier 2009
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694971/
https://www.ncbi.nlm.nih.gov/pubmed/19500772
http://dx.doi.org/10.1016/j.ajhg.2009.05.005

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