Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: A report of four cases

Clinical Dysmorphology

Volumn 21, Issue 1, 2012, Pages 15-18

  Hendriks, Anke G M ^a   Voermans, Nicol C ^a   Schalkwijk, Joost ^a   Hamel, Ben C ^a   Van Rossum, Michelle M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

EhlersDanlos syndrome; joint hypermobility; skin hyperextensibility; tenascin X deficiency; tissue fragility

Indexed keywords

TENASCIN; TENASCIN X; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ASTIGMATISM; CASE REPORT; CHILD; EHLERS DANLOS SYNDROME; ENZYME LINKED IMMUNOSORBENT ASSAY; FACE ASYMMETRY; FEMALE; HAPLOINSUFFICIENCY; HEMARTHROSIS; HUMAN; JOINT HYPERMOBILITY; LOW BACK PAIN; MALE; MYALGIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SHORT STATURE; SHOULDER DISLOCATION; SKIN BRUISING; SKIN DEFECT; SKIN EXAMINATION; TENASCIN X DEFICIENCY; WOUND HEALING IMPAIRMENT;

ADOLESCENT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EHLERS-DANLOS SYNDROME; FEMALE; GENES, RECESSIVE; HUMANS; MALE; METABOLIC DISEASES; MIDDLE AGED; MUTATION; SKIN ABNORMALITIES; TENASCIN; WOUND HEALING; YOUNG ADULT;

EID: 83255185107     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32834c4bb7     Document Type: Article

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