Rohrbach, Marianne and Vandersteen, Anthony and Yi?, Uluç and Serdaroglu, Gul and Ataman, Esra and Chopra, Maya and Garcia, Sixto and Jones, Kristi and Kariminejad, Ariana and Kraenzlin, Marius and Marcelis, Carlo and Baumgartner, Matthias and Giunta, Cecilia. (2011) Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) : clinical, molecular and biochemical delineation. Orphanet journal of rare diseases : OJRD, Vol. 6. p. 46.
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Official URL: http://edoc.unibas.ch/dok/A6006576
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Abstract
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) crosslinks excreted in the urine. Clinically the disorder is characterized by hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin hyperelasticity and fragility. Severe hypotonia usually leads to delay in gross motor development, whereas cognitive development is reported to be normal.
| Faculties and Departments: | 03 Faculty of Medicine > Bereich Medizinische Fächer (Klinik) > Endokrinologie / Diabetologie 03 Faculty of Medicine > Departement Klinische Forschung > Bereich Medizinische Fächer (Klinik) > Endokrinologie / Diabetologie |
|---|---|
| UniBasel Contributors: | Kraenzlin, Marius E. |
| Item Type: | Article, refereed |
| Article Subtype: | Research Article |
| Publisher: | BioMed Central |
| ISSN: | 1750-1172 |
| Note: | Publication type according to Uni Basel Research Database: Journal article |
| Identification Number: | |
| Last Modified: | 06 Dec 2013 09:36 |
| Deposited On: | 06 Dec 2013 09:36 |
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