Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.
Zweers
Manon C
MC
Bristow
Jim
J
Steijlen
Peter M
PM
Dean
Willow B
WB
Hamel
Ben C
BC
Otero
Marisol
M
Kucharekova
Martina
M
Boezeman
Jan B
JB
Schalkwijk
Joost
J
D000328:Adult; D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D019063:Tenascin / Q000235:genetics*
D019063:Tenascin; C081865:tenascin X