Condition: Bone Fragility with Contractures, Arterial Rupture, and Deafness
rs121434414
in
PLOD3
gene and
Bone Fragility with Contractures, Arterial Rupture, and Deafness
PMID 30089812
2018 Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3.
PMID 18834968
2008 A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.
PMID 30237576
2019 Autozygome and high throughput confirmation of disease genes candidacy.