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Article

Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.

European journal of medical genetics - 1 Dec 2024

Cho Tae-Joon, Lee Hyeran, Ko Jung Min, Song Mihyun, Shin Chang-Ho, Song Hae Ryong, Kim Ok-Hwa

Abstract excerpt

Heterozygous variants of MATN3 is one of the common causes of multiple epiphyseal dysplasia (MED). Here we report three individuals from two unrelated families who harbor compound heterozygous variants in MATN3 (p.Arg121Trp and p.Val220Ala). Contrary to the MED phenotype, these individuals exhibit spondyloepimetaphyseal dysplasia (SEMD) resembling the phenotypes caused by homozygous MATN3 variants. Clinical...

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PMID: 39293509
DOI: 10.1016/j.ejmg.2024.104972

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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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