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Article

Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.

European journal of human genetics : EJHG - 1 Jan 2016

Gostyńska Katarzyna B, Yan Yuen Wing, Pasmooij Anna Maria Gerdina, Stellingsma Cornelius, Pas Hendri H, Lemmink Henny, Jonkman Marcel F

Abstract excerpt

The hereditary blistering disease junctional epidermolysis bullosa (JEB) is always accompanied by structural enamel abnormalities of primary and secondary dentition, characterized as amelogenesis imperfecta. Autosomal recessive mutations in LAMA3, LAMB3 and LAMC2 encoding the heterotrimer laminin 332 (LM-332) are among the genes causing JEB. While examining pedigrees of JEB patients with LAMA3 mutations, we...

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Source

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Identifiers

PMID: 27827380
DOI: 10.1038/ejhg.2016.136
PMCID: PMC5159771

Genes

LAMA3
LAMB3
LAMC2

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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