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Paper Details

Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.
J Med Genet
37
2019
COPA, COPA syndrome, Copa syndrome, Extrapulmonary cysts, alveolar haemorrhage, autoimmune, autoimmune neurological disorders, autosomal dominant disorder, avascular necrosis, c.698, clear cell renal carcinoma, cough, dyspnoea, extrapulmonary cysts, follicular bronchiolitis, glomerular disease, hepatic cysts, interstitial lung disease, lung disease, lung,, malignancies, malignant disease, nephrolithiasis, neuroendocrine cell hyperplasia, neuromyelitis optica, pulmonary carcinoid tumour, pyelonephritis, renal cysts, rheumatoid arthritis
Author NameAffiliation
Thomas C Markello
Catherine Groden
Ellen Macnamara
William A Gahl
William A GahlNational Human Genome Research Institute
William A Gahl
William A GahlNational Human Genome Research Institute
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Release 1.2