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Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype
Cappuccio, G., Ginocchio, V.M., Maffè, A., Ungari, S., Andria, G., Melis, D.Volume:
85
Language:
english
Journal:
Clinical Genetics
DOI:
10.1111/cge.12115
Date:
February, 2014
File:
PDF, 547 KB
english, 2014