Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy - Archive ouverte HAL Accéder directement au contenu
Poster De Conférence Année : 2020

Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy

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hal-03986992 , version 1 (13-02-2023)

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  • HAL Id : hal-03986992 , version 1

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Enzo Cohen, Isabelle Nelson, Corine Gartioux, Maud Beuvin, Zaineb Mezdari, et al.. Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy. Solve-RD Annual Meeting, Mar 2020, Barcelona, Spain. ⟨hal-03986992⟩
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