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- The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneityBeom Hee Lee, Aneel Aggarwal, Anne Slavotinek, Lisa Edelmann, Brenden Chen, Robert J DesnickJournal of Medical Genetics Sep 2017, 54 (9) 585-590; DOI: 10.1136/jmedgenet-2017-104561
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