Abstract: Lysyl hydroxylase 3 enzyme is involved in post translational modification of collagen. LH3 is encoded by PLOD3 gene. Pathogenic mutation in this gene is previously reported to cause a connective tissue disorder. In this study, we describe the clinical features of two siblings with homozygous pathogenic variant in PLOD 3 gene, showing phenotypic heterogeneity between the two affected siblings.
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