Condition: Ehlers-Danlos syndrome caused by tenascin-X deficiency
rs121912575
in
TNXB
gene and
Ehlers-Danlos syndrome caused by tenascin-X deficiency
PMID 23768946
2013 Compound heterozygous mutations of the TNXB gene cause primary myopathy.
PMID 15733269
2005 Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.
PMID 11642233
2001 A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.