" /> Amelogenesis imperfecta, hypomaturation type, iia1 - CISMeF





Preferred Label : Amelogenesis imperfecta, hypomaturation type, iia1;

Symbol : AI2A1;

CISMeF acronym : AI2A1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amelogenesis imperfecta, pigmented hypomaturation type, 1;

Description : Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kallikrein-4 gene (KLK4, 603767.0001);

Prefixed ID : #204700;

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04/05/2025


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