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ENBone Fragility with Contractures, Arterial Rupture, and Deafness (BCARD)
Alias:
Lysyl Hydroxylase 3 Deficiency
Lh3 Deficiency
Bcard
Bone Fragility-Contractures-Arterial Rupture-Hearing Loss Syndrome
Connective Tissue Disorder Due to Lysyl Hydroxylase-3 Deficiency
Bone Fragility-Contractures-Arterial Rupture-Deafness Syndrome
Connective Tissue Disorder Due to Lh3 Deficiency
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Bone Fragility with Contractures, Arterial Rupture, and Deafness, also known as lysyl hydroxylase 3 deficiency, is related to hypertelorism and west syndrome. An important gene associated with Bone Fragility with Contractures, Arterial Rupture, and Deafness is PLOD3 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 3). Affiliated tissues include bone and skin, and related phenotypes are scoliosis and osteopenia
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MALACARDS
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