Amelogenesis imperfecta 2, hypoplastic local, autosomal dominant

*Gene map locus 4q21

AIH2

Amelogenesis imperfecta 2, hypocalcification type

Amelogenesis imperfecta, hypomineralization type

[Clinical features: soft opaque or yellowish white lusterless enamel; anterior open bite]

[Inheritance: autosomal dominant form; also recessive and X-linked forms]


A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)	Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta	Autosomal-dominant Hypoplastic Form of Amelogenesis Imperfecta Caused by an Enamelin Gene Mutation at the Exon-Intron Boundary
Human Molecular Genetics	Human Molecular Genetics	Journal of Dental Research


ENAM Mutations in Autosomal-dominant Amelogenesis Imperfecta	ENAM Mutations in Autosomal-dominant Amelogenesis Imperfecta
Journal of Dental Research	Journal of Dental Research

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Php programming by Robert Barbey Edited by Aldo Campana, November 3, 2009