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Article

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.

Journal of medical genetics - 20 Jun 2024

Smith Claire E L, Laugel-Haushalter Virginie, Hany Ummey, Best Sunayna, Taylor Rachel L, Poulter James A, Wortmann Saskia B, Feichtinger Rene G, Mayr Johannes A, Al Bahlani Suhaila, Nikolopoulos Georgios, Rigby Alice, Black Graeme C, Watson Christopher M, Mansour Sahar, Inglehearn Chris F, Mighell Alan J, Bloch-Zupan Agnès

Abstract excerpt

BACKGROUND: Plexins are large transmembrane receptors for the semaphorin family of signalling proteins. Semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages. Nine plexin genes have been identified in humans, but despite the apparent importance of plexins in development, only biallelic PLXND1 and PLXNA1 variants have so far been associated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38458752
DOI: 10.1136/jmg-2023-109728
PMCID: PMC11228227

Genes

PLXNB2
PLXNA1
PLXND1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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