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Article

Identity-by-descent analysis of CMTX3 links three families through a common founder.

Journal of human genetics - 1 Jan 2023

Henden Lyndal, Grosz Bianca R, Ellis Melina, Nicholson Garth A, Kennerson Marina, Williams Kelly L

Abstract excerpt

A large 78 kb insertion from chromosome 8q24.3 into Xq27.1 was identified as the cause of CMTX3 in three families of European descent from Australia (CMT193, CMT180) and New Zealand/United Kingdom (CMT623). Using the relatedness tool XIBD to perform genome-wide identity-by-descent (IBD) analysis on 16 affected individuals from the three families demonstrated they all share the CMTX3 disease locus...

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Identifiers

PMID: 36100665
DOI: 10.1038/s10038-022-01078-1
PMCID: PMC9812773

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