" /> Amelogenesis imperfecta and gingival fibromatosis syndrome - CISMeF





Preferred Label : Amelogenesis imperfecta and gingival fibromatosis syndrome;

Obsolete resource : true;

Moved to : 204690;

Alternative titles and symbols : Aigfs;

Description : Amelogenesis imperfecta and gingival fibromatosis syndrome is an autosomal recessive condition characterized by mild gingival fibromatosis and dental anomalies, including hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies, and unerupted teeth (Martelli-Junior et al., 2008).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the family with sequence similarity 20, membera gene (fam20a, 611062.0001);

Laboratory abnormalities : Normal serum calcium;

Prefixed ID : 614253;

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30/07/2025


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