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Amelogenesis Imperfecta (AI), also known as Familial Enamel Hypoplasia (FEH), represents a heterogeneous group of hereditary disorders affecting tooth enamel.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 13 |
| Mutation | c.716C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | AI; FEH |
Informations générales
Amelogenesis Imperfecta (AI), also known as Familial Enamel Hypoplasia (FEH), represents a heterogeneous group of hereditary disorders affecting tooth enamel. The condition uniformly affects deciduous and permanent teeth and is manifested by enamel roughening/thinning and brownish mottling. This variant of the disorder is caused by a recessive mutation to the gene ENAM, and is found in the Parson Russell Terrier and Jack Russell Terrier.
Caractéristiques cliniques
Les dents touchées sont souvent petites et pointues avec des espaces accrus. Aucun tissu ou organe autre que les dents n’est affecté par cette maladie. Tous les troubles peuvent être classés en types hypoplasiques, hypomaturation et hypominéralisés.
Additional Information
Références
Pubmed ID: 30877375
Year published: 2019
Omia ID: 1805
Omia variant ID: 1044