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Author

Adila Al Kindy

1 paper indexed here

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Oct 2026

MOLECULAR AND CLINICAL FEATURES OF KYPHOSCOLIOTIC EHLERS-DANLOS SYNDROME DUE TO LYSYL HYDROXYLASE 1 DEFICIENCY.

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is caused by biallelic pathogenic variants in either PLOD1, encoding the enzyme lysyl hydroxylase 1 (LH1), which is crucial for collagen lysine hydroxylation and crosslink formation or in FKBP14, encoding the collagen chaperone FKBP22. This study aims to define the clinical...

D. Syx, M. Colman, Zoë Malfait et al. · 0 citations

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