Associated Papers
Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.
Hany U et al.
Human Mutation, 2025
Intra-familial phenotype variant in hypoplastic amelogenesis imperfecta under a complex genetic component: a family report, whole-exome sequencing, and literature review.
Lanza CRM et al.
Journal of Applied Oral Science : Revista Fob, 2025
ENAM mutations and digenic inheritance.
Zhang H et al.
Molecular Genetics & Genomic Medicine, 2019
31478359 (PubMed )
Supplement: MGG3-7-e00928-s001.pdf
Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.
Koruyucu M et al.
Journal of Dental Research, 2018
29554435 (PubMed )
Supplement: ds_10.1177_0022034518763152.pdf
ENAM mutations with incomplete penetrance.
Seymen F et al.
Journal of Dental Research, 2014
Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56.
Simmer SG et al.
Clinical Genetics, 2013
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