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

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Rohrbach, Marianne ^a   Vandersteen, Anthony ^b   Yi, Uluç ^c   Serdaroglu, Gul ^d   Ataman, Esra ^d   Chopra, Maya ^e   Garcia, Sixto ^f   Jones, Kristi ^e   Kariminejad, Ariana ^g   Kraenzlin, Marius ^h   Marcelis, Carlo ⁱ   Baumgartner, Matthias ^a   Giunta, Cecilia ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b EALING HOSPITAL NHS TRUST   (United Kingdom)

^c Gaziantep Children's Hospital   (Turkey)

^d EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^e UNIVERSITY OF SYDNEY   (Australia)

^f HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

^g Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^h UNIVERSITY HOSPITAL BASEL   (Switzerland)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BIOCHEMISTRY; BLOOD VESSEL RUPTURE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COGNITION; CONTROLLED STUDY; DISEASE SEVERITY; EHLERS DANLOS SYNDROME; ELECTRON MICROSCOPY; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KYPHOSCOLIOSIS; MALE; MORBIDITY; PHENOTYPIC VARIATION; SKIN; ADOLESCENT; ADULT; BIOPSY; CELL CULTURE; CHILD; DEVELOPMENTAL DISORDER; FIBROBLAST; GENETICS; GENOTYPE; INFANT; KYPHOSIS; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; SCOLIOSIS; URINE;

AMINO ACID; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE; PYRIDINOLINE;

ADOLESCENT; ADULT; AMINO ACIDS; BIOPSY; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EHLERS-DANLOS SYNDROME; FEMALE; FIBROBLASTS; GENOTYPE; HUMANS; INFANT; KYPHOSIS; MALE; MUSCLE HYPOTONIA; PHENOTYPE; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; SCOLIOSIS; SKIN;

EID: 79959405171     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-46     Document Type: Article

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