The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations

American Journal of Medical Genetics, Part A

Volumn 170, Issue 1, 2016, Pages 103-115

  Janecke, Andreas R ^a   Li, Ben ^b   Boehm, Manfred ^c   Krabichler, Birgit ^a   Rohrbach, Marianne ^d   Müller, Thomas ^a   Fuchs, Irene ^a   Golas, Gretchen ^e   Katagiri, Yasuhiro ^c   Ziegler, Shira G ^e   Gahl, William A ^e   Wilnai, Yael ^f   Zoppi, Nicoletta ^g   Geller, Herbert M ^c   Giunta, Cecilia ^d   Slavotinek, Anne ^b   Steinmann, Beat ^d  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^f STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF BRESCIA   (Italy)

Author keywords

Adducted thumb; Arthrogryposis; Clubfoot; Connective tissue; Deficiency; Dermatan sulfate; Dermatan sulfate epimerase; Ehlers Danlos syndrome; Myopathy; N acetylgalactosamine 4 O sulfotransferase; Proteoglycan

Indexed keywords

CHONDROITIN SULFATE; COLLAGEN TYPE 1; COLLAGEN TYPE 3; CREATINE KINASE; DECORIN; DERMATAN SULFATE; GLYCOSAMINOGLYCAN; THROMBOSPONDIN; DERMATAN-4-SULFOTRANSFERASE-1; SULFOTRANSFERASE;

ADULT; ALLELE; ARTICLE; BLINDNESS; BRACHYCEPHALY; BRAIN HEMORRHAGE; CHST14 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; EHLERS DANLOS SYNDROME; ENDOCARDITIS; FEMALE; FIBROBLAST; FOLLOW UP; GENE; GENE MUTATION; HEMATOMA; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE MICROSCOPY; KYPHOSCOLIOSIS; MALE; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; RETINA DETACHMENT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; ADOLESCENT; CHILD; CONNECTIVE TISSUE DISEASE; DERMIS; GENETICS; INDIRECT FLUORESCENT ANTIBODY TECHNIQUE; INFANT; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONNECTIVE TISSUE DISEASES; DERMIS; EHLERS-DANLOS SYNDROME; FEMALE; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; SULFOTRANSFERASES; YOUNG ADULT;

EID: 84955624234     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37383     Document Type: Article

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