Case report
Open access
Sep 2026
Novel Compound-Heterozygous Variants in PYCR1 Expand the Variant Spectrum of Autosomal Recessive Cutis Laxa
These two previously unreported PYCR1 variants extend the PYCR1 variant spectrum and are supported by complementary segregation, RNA-level, and protein-level evidence.
Xin Wang, Zhu-Ran Zhao, Wei-Ke Cheng et al.
· Genes · 0 citations