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X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2(AIH3, FORMERLY)

MedGen UID:
336845
•Concept ID:
C1845051
•
Disease or Syndrome
Synonyms: AIH3 ( formerly); AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE; Amelogenesis imperfecta 3, hypoplastic type (formerly); ENAMEL HYPOPLASIA, X-LINKED 2
 
Monarch Initiative: MONDO:0010522
OMIM®: 301201

Definition

An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. [from MONDO]

Clinical features

From HPO
Amelogenesis imperfecta
MedGen UID:
240
•Concept ID:
C0002452
•
Congenital Abnormality
A developmental dysplasia of the dental enamel.
See: Feature record | Search on this feature

Professional guidelines

PubMed

AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.
Wang SK, Zhang H, Lin HC, Wang YL, Lin SC, Seymen F, Koruyucu M, Simmer JP, Hu JC
Int J Mol Sci 2024 Jun 1;25(11) doi: 10.3390/ijms25116132. PMID: 38892321Free PMC Article

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