tenascin-X deficiency

A clinically distinct autosomal recessive (OMIM:606408) Ehlers-Danlos-like condition characterised by hyperextensible skin, hypermobile joints and tissue fragility. These patients lack atrophic scars—a major diagnostic criteria for classic Ehlers-Danlos syndrome (EDS); delayed wound healing, a feature of classic EDS, is only present in some patients.
Molecular pathology
Defects of TNXB, which encodes an extracellular matrix glycoprotein of the tensacin family, cause Ehlers-Danlos-like syndrome.

单词	tenascin-x deficiency
释义	tenascin-X deficiency tenascin-X deficiency A clinically distinct autosomal recessive (OMIM:606408) Ehlers-Danlos-like condition characterised by hyperextensible skin, hypermobile joints and tissue fragility. These patients lack atrophic scars—a major diagnostic criteria for classic Ehlers-Danlos syndrome (EDS); delayed wound healing, a feature of classic EDS, is only present in some patients. Molecular pathology Defects of TNXB, which encodes an extracellular matrix glycoprotein of the tensacin family, cause Ehlers-Danlos-like syndrome.
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