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

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 r...

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Bibliographic Details
Published in:	Orphanet journal of rare diseases Vol. 6; no. 1; p. 46
Main Authors:	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:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 23-06-2011 BioMed Central BMC
Subjects:	Adolescent Adult Amino Acids - urine Biopsy Care and treatment Cells, Cultured Child Child, Preschool Development and progression Developmental Disabilities - genetics Developmental Disabilities - pathology Diagnosis DNA Mutational Analysis Ehlers-Danlos syndrome Ehlers-Danlos Syndrome - diagnosis Ehlers-Danlos Syndrome - genetics Ehlers-Danlos Syndrome - pathology Female Fibroblasts - pathology Genotype Humans Infant Kyphosis - genetics Kyphosis - pathology Male Muscle Hypotonia - genetics Muscle Hypotonia - pathology Neck Phenotype Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase - genetics Prognosis Scoliosis - genetics Scoliosis - pathology Skin - pathology Surgery United Kingdom Switzerland Turkey
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