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Article

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Human mutation - 1 Oct 2018

Pettersson Maria, Vaz Raquel, Hammarsjö Anna, Eisfeldt Jesper, Carvalho Claudia M B, Hofmeister Wolfgang, Tham Emma, Horemuzova Eva, Voss Ulrika, Nishimura Gen, Klintberg Bo, Nordgren Ann, Nilsson Daniel, Grigelioniene Giedre, Lindstrand Anna

Abstract excerpt

Skeletal dysplasias are a diverse group of rare Mendelian disorders with clinical and genetic heterogeneity. Here, we used targeted copy number variant (CNV) screening and identified intragenic exonic duplications, formed through Alu-Alu fusion events, in two individuals with skeletal dysplasia and negative exome sequencing results. First, we detected a homozygous tandem duplication of exon 9 and 10 in IFT81 in a...

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Share to Alu Elements
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30080953
DOI: 10.1002/humu.23605

Genes

IFT81
MATN3

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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