Article
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.
Orphanet journal of rare diseases - 23 Jun 2011
Rohrbach Marianne, Vandersteen Anthony, Yiş Uluç, Serdaroglu Gul, Ataman Esra, Chopra Maya, Garcia Sixto, Jones Kristi, Kariminejad Ariana, Kraenzlin Marius, Marcelis Carlo, Baumgartner Matthias, Giunta Cecilia
Abstract excerpt
BACKGROUND: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400) is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4) due to mutations in PLOD1. Biochemically this results in underhydroxylation of collagen lysyl residues and, hence, an abnormal pattern of lysyl pyridinoline (LP) and hydroxylysyl pyridinoline (HP)...
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