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Article

Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.

Archives of oral biology - 1 Jun 2015

Volodarsky Michael, Zilberman Uri, Birk Ohad S

Abstract excerpt

OBJECTIVE: To relate the peculiar phenotype of amelogenesis imperfecta in a large Bedouin family to the genotype determined by whole genome linkage analysis. DESIGN: Amelogenesis imperfecta (AI) is a broad group of inherited pathologies affecting enamel formation, characterized by variability in phenotypes, causing mutations and modes of inheritance. Autosomal recessive or compound heterozygous mutations in...

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PMID: 25827751
DOI: 10.1016/j.archoralbio.2015.02.018

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