Genetic heterogeneity and clinical variability in musculocontractural ehlers-danlos syndrome caused by impaired dermatan sulfate biosynthesis

Human Mutation

Volumn 36, Issue 5, 2015, Pages 535-547

  Syx, Delfien ^a   Van Damme, Tim ^a   Symoens, Sofie ^a   Maiburg, Merel C ^b   van de Laar, Ingrid ^c   Morton, Jenny ^d   Suri, Mohnish ^e   Del campo, Miguel ^f   Hausser, Ingrid ^g   Hermanns Lê, Trinh ^h   De Paepe, Anne ^a   Malfait, Fransiska ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^e NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^f HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^g UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^h UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

CHST14; Dermatan 4 O sulfotransferase 1; Dermatan sulfate epimerase 1; DSE; EDS; Ehlers Danlos syndrome

Indexed keywords

DECORIN; DERMATAN SULFATE; COLLAGEN; DERMATAN-4-SULFOTRANSFERASE-1; DNA BINDING PROTEIN; DSE PROTEIN, HUMAN; FIBRONECTIN; MESSENGER RNA; SULFOTRANSFERASE; TUMOR ANTIGEN; TUMOR PROTEIN;

ADULT; ANGIOID STREAK; ARACHNODACTYLY; ARTICLE; ASTIGMATISM; BIOSYNTHESIS; CAMPTODACTYLY; CELL DIFFERENTIATION; CELL MIGRATION; CEREBELLUM HYPOPLASIA; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; COLLAGEN FIBRIL; CONNECTIVE TISSUE; CONTROLLED STUDY; CRYPTORCHISM; CYSTOCELE; DANDY WALKER SYNDROME; EHLERS DANLOS SYNDROME; EXOPHTHALMOS; FEMALE; FIBROBLAST; FIBROBLAST CULTURE; FINGER MALFORMATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HALLUX VALGUS; HEART ATRIUM SEPTUM DEFECT; HETEROZYGOTE; HIGH MYOPIA; HOMOZYGOTE; HUMAN; HYDRONEPHROSIS; HYPERMETROPIA; HYPERTELORISM; IMMUNOFLUORESCENCE TEST; INGUINAL HERNIA; INTRAUTERINE GROWTH RETARDATION; JOINT LAXITY; LEG INJURY; LOW SET EAR; MALE; MIDDLE AGED; MIDFACE HYPOPLASIA; MITRAL VALVE PROLAPSE; MUSCULOCONTRACTURAL EHLERS DANLOS SYNDROME; MYALGIA; MYOPIA; ORGANOGENESIS; PATELLA DISLOCATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCOLIOSIS; SECRETORY OTITIS MEDIA; SHOULDER DISLOCATION; TRANSMISSION ELECTRON MICROSCOPY; WESTERN BLOTTING; WOUND HEALING; YOUNG ADULT; ADOLESCENT; AMINO ACID SEQUENCE; BIOPSY; CASE REPORT; CHEMISTRY; EHLERS-DANLOS SYNDROME; EXON; EXTRACELLULAR MATRIX; FACIES; GENETICS; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE; SEQUENCE ALIGNMENT; SKIN; ULTRASTRUCTURE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANTIGENS, NEOPLASM; BIOPSY; CHILD; COLLAGEN; DERMATAN SULFATE; DNA-BINDING PROTEINS; EHLERS-DANLOS SYNDROME; EXONS; EXTRACELLULAR MATRIX; FACIES; FEMALE; FIBRONECTINS; GENETIC HETEROGENEITY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; PEDIGREE; PHENOTYPE; RNA, MESSENGER; SEQUENCE ALIGNMENT; SKIN; SULFOTRANSFERASES; YOUNG ADULT;

EID: 84928206756     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22774     Document Type: Article

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