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Article

A novel de novo mutation in LAMB3 causes localized hypoplastic enamel in the molar region.

European journal of oral sciences - 1 Aug 2016

Kim Young-Jae, Shin Teo J, Hyun Hong-Keun, Lee Sang-Hoon, Lee Zang H, Kim Jung-Wook

Abstract excerpt

Amelogenesis imperfecta (AI) is a collection of diseases characterized by hereditary enamel defects and is heterogeneous in genetic etiology and clinical phenotype. In this study, we recruited a nuclear AI family with a proband having unique irregular hypoplastic pits and grooves in all surfaces of the deciduous molar teeth but not in the deciduous anterior teeth. Based on the candidate gene approach, we screened...

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Source

Identifiers

PMID: 27220909
DOI: 10.1111/eos.12280

Genes

LAMB3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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