Title |
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
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Published in |
Orphanet Journal of Rare Diseases, January 2011
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DOI | 10.1186/1750-1172-6-46 |
Pubmed ID | |
Authors |
Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş, Gul Serdaroglu, Esra Ataman, Maya Chopra, Sixto Garcia, Kristi Jones, Ariana Kariminejad, Marius Kraenzlin, Carlo Marcelis, Matthias Baumgartner, Cecilia Giunta |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Korea, Republic of | 1 | 2% |
Canada | 1 | 2% |
Unknown | 58 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 8 | 13% |
Student > Bachelor | 8 | 13% |
Student > Master | 5 | 8% |
Researcher | 4 | 7% |
Student > Ph. D. Student | 4 | 7% |
Other | 11 | 18% |
Unknown | 20 | 33% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 18 | 30% |
Nursing and Health Professions | 6 | 10% |
Biochemistry, Genetics and Molecular Biology | 4 | 7% |
Agricultural and Biological Sciences | 4 | 7% |
Sports and Recreations | 3 | 5% |
Other | 5 | 8% |
Unknown | 20 | 33% |