Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

American Journal of Medical Genetics, Part A

Volumn 155, Issue 8, 2011, Pages 1949-1958

  Shimizu, Kenji ^a   Okamoto, Nobuhiko ^b   Miyake, Noriko ^c   Taira, Katsuaki ^a   Sato, Yumiko ^a   Matsuda, Keiko ^b   Akimaru, Noriko ^b   Ohashi, Hirofumi ^a   Wakui, Keiko ^d   Fukushima, Yoshimitsu ^d   Matsumoto, Naomichi ^c   Kosho, Tomoki ^d  

^a SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Adducted thumb clubfoot syndrome; Congenital contractures; Dermatan 4 O sulfotransferase 1 deficiency; Ehlers Danlos syndrome Kosho type; Malformations; Musculocontractural Ehlers Danlos syndrome; Progressive multisystem fragility related manifestations

Indexed keywords

DERMATAN 4 O SULFOTRANSFERASE 1; SULFOTRANSFERASE; UNCLASSIFIED DRUG;

ARTHROPATHY; ARTICLE; CAPILLARY RESISTANCE; CARDIOVASCULAR MALFORMATION; CASE REPORT; CENTRAL NERVOUS SYSTEM MALFORMATION; CHILD; CLINICAL FEATURE; CLINICAL OBSERVATION; CONTRACTURE; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE COURSE; EHLERS DANLOS SYNDROME; ENZYME DEFICIENCY; EYE DISEASE; EYE MALFORMATION; GASTROINTESTINAL DISEASE; GASTROINTESTINAL MALFORMATION; HEMATOMA; HUMAN; JOINT DISLOCATION; KIDNEY MALFORMATION; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; SKIN DISEASE; VALVULAR HEART DISEASE;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CLUBFOOT; CRANIOFACIAL ABNORMALITIES; CRYPTORCHIDISM; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EHLERS-DANLOS SYNDROME; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; PHENOTYPE; SULFOTRANSFERASES;

EID: 79960561353     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34115     Document Type: Article

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