Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers–Danlos syndrome type VI
HN Yeowell, LC Walker - Molecular genetics and metabolism, 2000 - Elsevier
The Ehlers–Danlos syndromes are a heterogeneous group of inherited connective tissue
disorders that are characterized by joint hypermobility and skin fragility and
hyperextensibility. Patients with the autosomal recessive type VI variant of the Ehlers–
Danlos syndromes (EDS VI), also classified as the kyphoscoliotic type, are clinically
characterized by neonatal kyphoscoliosis, generalized joint laxity, skin fragility, and severe
muscle hypotonia at birth. Biochemically, this has been attributed to a deficiency of lysyl …
disorders that are characterized by joint hypermobility and skin fragility and
hyperextensibility. Patients with the autosomal recessive type VI variant of the Ehlers–
Danlos syndromes (EDS VI), also classified as the kyphoscoliotic type, are clinically
characterized by neonatal kyphoscoliosis, generalized joint laxity, skin fragility, and severe
muscle hypotonia at birth. Biochemically, this has been attributed to a deficiency of lysyl …