Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene


Amelogenesis imperfecta (AI; MIM 104530) is a heterogeneous collection of disorders encompassing inherited congenital defects of dental enamel formation, causing variably small, discolored, pitted, grooved, or fragile primary or permanent teeth. At least 14 syndromic and non-syndromic AI subtypes have been described, including autosomal dominant and… (More)
DOI: 10.1038/jhg.2013.44

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