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a Pedigree of the family; circles, females; squares, males; half symbol, heterozygous mutation; black symbol, PTCH1 mutation; blue symbol, PTCH2 mutation. b Chest X-ray (upper row) and photos (bottom row) of the new born boy at the age of 3 days and 7 months. c MRI scans, sagittal axis, show the very large paravertebral tumor at diagnosis until the end of treatment. d Hematoxylin and Eosin staining of the tumour at diagnosis
