Article

Novel compound-heterozygous variants in PYCR1 broaden the mutation spectrum of autosomal-recessive cutis laxa

2026-07-15

Abstract excerpt

<title>Abstract</title> <p> <bold>Background and Objectives:</bold> Autosomal recessive cutis laxa (ARCL) is a rare genetically heterogeneous connective tissue disorder characterized by loose, inelastic skin and variable multisystem involvement, including developmental delay and neurologic abnormalities. Pathogenic variants in <italic>PYCR1</italic> are an established cause of ARCL, but the spectrum and funct...

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Literature Corpus work: f35d33b9-2f61-5e0f-a2ba-63aaa425292d
DOI: 10.21203/rs.3.rs-9640813/v1

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