Oculodentodigital dysplasia
Definition:
References:
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[1]. Maria Frasson, et al. Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance. Ophthalmic Genet. 2004 Sep;25(3):227-36. [Content Brief]
[2]. William A Paznekas, et al. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat. 2009 May;30(5):724-33. [Content Brief]