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Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: A familial case with 17q21.33-q22 ( COL1A1 and DLX3 ) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion
Harbuz, Radu, Bilan, Frédéric, Couet, Dominique, Charraud, Valérie, Kitzis, Alain, Gilbert-Dussardier, BrigitteLanguage:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.36122
Date:
August, 2013
File:
PDF, 2.53 MB
english, 2013