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22 Possible Causes for Caused by Mutation in the Tenascin Xb Gene

  • Kyphoscoliosis

    A final diagnosis requires molecular testing; clEDS is caused by a complete lack of Tenascin XB (due to biallelic TNXB mutations, that lead to nonsense-mediated mRNA decay[ehlers-danlos.com] TNXB is the only gene associated with clEDS. Classical-like EDS is inherited in the autosomal recessive pattern.[ehlers-danlos.com]

  • Vesicoureteral Reflux 8

    Urine Interlukein-8 as a Diagnostic Test for Vesicoureteral Reflux in Children A. R. Merrikhi,A. Gheissari ( Department of Pediatric Nephrology, Isfahan Kidney Diseases Research Center, University of Medical Sciences, Isfahan, Iran. ) M. Keivanfar ( Pediatrics Department, Faculty of Medicine, Isfahan University of Medical[…][jpma.org.pk]

  • Ehlers-Danlos Syndrome due to Tenascin-X Deficiency

    Voermans NC et al. (2014) Compound heterozygous mutations of the TNXB gene cause primary myopathy. [ ] 14. OMIM.ORG article Omim 606408 [ ] 15.[moldiag.com] Chen W et al. (2009) The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects. [ ] 13.[moldiag.com]

  • Ehlers-Danlos-Syndrome Type 10

    A final diagnosis requires molecular testing; clEDS is caused by a complete lack of Tenascin XB (due to biallelic TNXB mutations, that lead to nonsense-mediated mRNA decay[ehlers-danlos.com] TNXB is the only gene associated with clEDS. Classical-like EDS is inherited in the autosomal recessive pattern.[ehlers-danlos.com]

  • Brittle Cornea Syndrome 2

    A final diagnosis requires molecular testing; clEDS is caused by a complete lack of Tenascin XB (due to biallelic TNXB mutations, that lead to nonsense-mediated mRNA decay[ehlers-danlos.com] TNXB is the only gene associated with clEDS. Classical-like EDS is inherited in the autosomal recessive pattern.[ehlers-danlos.com]

  • Ehlers-Danlos Syndrome, Type 3

    A final diagnosis requires molecular testing; clEDS is caused by a complete lack of Tenascin XB (due to biallelic TNXB mutations, that lead to nonsense-mediated mRNA decay[ehlers-danlos.com] TNXB is the only gene associated with clEDS. Classical-like EDS is inherited in the autosomal recessive pattern.[ehlers-danlos.com]

  • Ehlers-Danlos Syndrome Type 2

    A final diagnosis requires molecular testing; clEDS is caused by a complete lack of Tenascin XB (due to biallelic TNXB mutations, that lead to nonsense-mediated mRNA decay[ehlers-danlos.com] TNXB is the only gene associated with clEDS. Classical-like EDS is inherited in the autosomal recessive pattern.[ehlers-danlos.com]

  • Ehlers Danlos Syndrome

    A final diagnosis requires molecular testing; clEDS is caused by a complete lack of Tenascin XB (due to biallelic TNXB mutations, that lead to nonsense-mediated mRNA decay[ehlers-danlos.com] TNXB is the only gene associated with clEDS. Classical-like EDS is inherited in the autosomal recessive pattern.[ehlers-danlos.com]

  • Dermatosparaxis

    A final diagnosis requires molecular testing; clEDS is caused by a complete lack of Tenascin XB (due to biallelic TNXB mutations, that lead to nonsense-mediated mRNA decay[ehlers-danlos.com] TNXB is the only gene associated with clEDS. Classical-like EDS is inherited in the autosomal recessive pattern.[ehlers-danlos.com]

  • Brittle Cornea Syndrome

    A final diagnosis requires molecular testing; clEDS is caused by a complete lack of Tenascin XB (due to biallelic TNXB mutations, that lead to nonsense-mediated mRNA decay[ehlers-danlos.com] TNXB is the only gene associated with clEDS. Classical-like EDS is inherited in the autosomal recessive pattern.[ehlers-danlos.com]

Further symptoms