Article
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
American journal of human genetics - 1 Jun 2009
Stankiewicz Paweł, Sen Partha, Bhatt Samarth S, Storer Mekayla, Xia Zhilian, Bejjani Bassem A, Ou Zhishuo, Wiszniewska Joanna, Driscoll Daniel J, Maisenbacher Melissa K, Bolivar Juan, Bauer Mislen, Zackai Elaine H, McDonald-McGinn Donna, Nowaczyk Małgorzata M J, Murray Mitzi, Hustead Virginia, Mascotti Kristin, Schultz Regina, Hallam Lavinia, McRae Duncan, Nicholson Andrew G, Newbury Robert, Durham-O'Donnell Jane, Knight Gail, Kini Usha, 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
Abstract excerpt
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 overlapping microdeletions encompassing the FOX transcription factor gene cluster in chromosome 16q24.1q24.2 in patients with...
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