Ehlers-Danlos syndrome due to tenascin-X deficiency

Burch GH et al. (1997) Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.

Schalkwijk J et al. (2001) A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

Zweers MC et al. (2003) Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.

Zweers MC et al. (2005) Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.

Pénisson-Besnier I et al. (2013) Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Larsson LG et al. (1987) Hypermobility: features and differential incidence between the sexes.

Rikken-Bultman DG et al. (1997) Hypermobility in two Dutch school populations.

Kirschner J et al. (2005) Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes.

Lindor NM et al. (2005) Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome.

Voermans NC et al. (2007) Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies.

Voermans NC et al. (2009) Neuromuscular involvement in various types of Ehlers-Danlos syndrome.

Chen W et al. (2009) The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.

Voermans NC et al. (2014) Compound heterozygous mutations of the TNXB gene cause primary myopathy.

OMIM.ORG article

Orphanet article