Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2935-2940

  Winters, Kevin A ^a   Jiang, Zhijie ^b   Xu, Weihong ^a   Li, Shibo ^a   Ammous, Zineb ^c   Jayakar, Parul ^c   Wierenga, Klaas J ^a  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF MIAMI   (United States)

^c MIAMI CHILDREN'S HOSPITAL   (United States)

Author keywords

Adducted thumb clubfoot syndrome; Congenital contractures; Craniofacial characteristics; Dermatan 4 O sulfotransferase 1 deficiency; Joint laxity; Kyphoscoliosis; Malformation; Marden Walker syndrome; Recurrent subcutaneous hematomas; Skin laxity

Indexed keywords

DERMATAN 4 SULFOTRANSFERASE 1; SULFOTRANSFERASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARACHNODACTYLY; ARTICLE; BLEPHAROPHIMOSIS; BONE MALFORMATION; BRAIN MALFORMATION; CAMPTODACTYLY; CASE REPORT; CEREBELLUM VERMIS; CHST14 GENE; CLINICAL FEATURE; DISEASE SEVERITY; ECCHYMOSIS; EHLERS DANLOS SYNDROME; ENTROPION; FACE DYSMORPHIA; FEMALE; FOOT MALFORMATION; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE INSERTION; GENE MAPPING; HEART ATRIUM SEPTUM DEFECT; HOMOZYGOSITY; HUMAN; KYPHOSCOLIOSIS; MALOCCLUSION; MARDEN WALKER SYNDROME; MICROARRAY ANALYSIS; MICROCEPHALY; MIDFACE HYPOPLASIA; MUSCULOSKELETAL DISEASE; MYOPIA; PHENOTYPE; PRIORITY JOURNAL; RETROGNATHIA; SEPTUM PELLUCIDUM; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN SCAR;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ARACHNODACTYLY; BASE SEQUENCE; BLEPHAROPHIMOSIS; BRAIN; COMPARATIVE GENOMIC HYBRIDIZATION; CONNECTIVE TISSUE DISEASES; CONTRACTURE; DIAGNOSIS, DIFFERENTIAL; EHLERS-DANLOS SYNDROME; FACIES; FEMALE; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SPINE; SULFOTRANSFERASES; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84867854926     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35613     Document Type: Article

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