Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

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 coll...

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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2011
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3135503/
https://ncbi.nlm.nih.gov/pubmed/21699693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-46
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