Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA khinchapp@mail.nih.gov.
Payal P
PP
Khincha
Baylor College of Medicine, Houston, TX, USA.
Alison A
AA
Bertuch
Division of Haematology/Oncology, Boston Children's Hospital, Boston, MA, USA.
Suneet
S
Agarwal
Hematology Branch, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA.
Danielle M
DM
Townsley
Hematology Branch, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, USA.
Neal S
NS
Young
Division of Haematology, Dept of Medicine, University of Washington, Seattle, WA, USA.
Siobán
S
Keel
Division of Haematology/Oncology, Boston Children's Hospital, Boston, MA, USA.
Akiko
A
Shimamura
Paediatric Oncology and Bone Marrow Transplant Service, Dept of Paediatrics, Memorial Sloan Kettering Cancer Centre, New York, NY, USA.
Farid
F
Boulad
Dept of Pulmonology, Connecticut Children's Medical Centre, Hartford, CT, USA.
Tregony
T
Simoneau
Baylor College of Medicine, Houston, TX, USA.
Henri
H
Justino
Dept of Pulmonology, Lucile Packard Children's Hospital Stanford, Palo Alto, CA, USA.
Christin
C
Kuo
Cancer Biology Program, Stanford University School of Medicine, Palo Alto, CA, USA.
Steven
S
Artandi
Helen DeVos Children's Hospital, Grand Rapids, MI, USA.
Charles
C
McCaslin
Paediatric Respiratory Medicine, Our Lady's Children's Hospital, Dublin, Ireland.
Des W
DW
Cox
Paediatric Haematology Oncology, Children's Hospital at Dartmouth, Dartmouth-Hitchcock Medical Centre, Lebanon, NH, USA.
Sara
S
Chaffee
Centre for Interstitial Lung Diseases, Division of Pulmonary and Critical Care Medicine/Dept of Medicine, University of Washington, Seattle, WA, USA.
Bridget F
BF
Collins
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Neelam
N
Giri
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Blanche P
BP
Alter
Centre for Interstitial Lung Diseases, Division of Pulmonary and Critical Care Medicine/Dept of Medicine, University of Washington, Seattle, WA, USA.|Both authors contributed equally.
Ganesh
G
Raghu
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.|Both authors contributed equally.
Sharon A
SA
Savage
D000293:Adolescent; D000328:Adult; D001164:Arteriovenous Fistula / Q000235:genetics* / Q000503:physiopathology; D001853:Bone Marrow; D002648:Child; D002675:Child, Preschool; D019871:Dyskeratosis Congenita / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D000860:Hypoxia; D007223:Infant; D007962:Leukocytes / Q000166:cytology; D008168:Lung / Q000473:pathology; D008297:Male; D009154:Mutation; D010477:Perfusion; D010641:Phenotype; D011651:Pulmonary Artery / Q000002:abnormalities* / Q000503:physiopathology; D011667:Pulmonary Veins / Q000002:abnormalities* / Q000503:physiopathology; D012189:Retrospective Studies; D019098:Telomerase / Q000235:genetics*; D016615:Telomere / Q000235:genetics; D055815:Young Adult
D019098:Telomerase