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

The American Journal of Human Genetics - Tập 84 - Trang 780-791 - 2009
Paweł Stankiewicz1,2, Partha Sen3, Samarth S. Bhatt1, Mekayla Storer4,5, Zhilian Xia1, Bassem A. Bejjani6, Zhishuo Ou1, Joanna Wiszniewska1, Daniel J. Driscoll7, Juan Bolivar8, Mislen Bauer9, Elaine H. Zackai10, Donna McDonald-McGinn10, Małgorzata M.J. Nowaczyk11, Mitzi Murray12, Tamim H. Shaikh10, Vicki Martin4,5, Matthew Tyreman13, Ingrid Simonic13, Lionel Willatt13
1Dept of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
2Dept of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland
3Dept of Pediatrics – Nutrition, Baylor College of Medicine, Houston, TX 77030, USA
4Institute of Child Health, WC1N 1EH London, UK
5Wellcome Trust Sanger Institute, Hinxton, CB10 1SA, Cambridge, UK
6Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA
7Division of Pediatric Genetics and Metabolism, University of Florida College of Medicine, Gainesville, FL 32610, USA
8Dept of Cardiology, Miami Children's Hospital, Miami, FL 33155, USA
9Dept of Genetics, Miami Children's Hospital, Miami, FL 33155, USA
10Division of Human Genetics, Children's Hospital of Philadelphia, PA 19104, USA
11Dept of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario L8S 3K9, Canada
12Dept of Medical Genetics, University of Washington, Seattle, WA 98195, USA
13Dept of Medical Genetics, Addenbrooke's Hospital, CB2 0QQ Cambridge, UK

Tài liệu tham khảo

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