No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome.
Bottani
Armand
A
Pardo
Bruno
B
Bouchardy
Isabelle
I
Schoumans
Jacqueline
J
Toutain
Annick
A
Conrad
Bernard
B
D000015:Abnormalities, Multiple / Q000235:genetics; D004252:DNA Mutational Analysis; D019066:Facies; D006801:Humans; D017346:Protein Serine-Threonine Kinases / Q000235:genetics* / Q000502:physiology; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics* / Q000502:physiology; D015398:Signal Transduction / Q000235:genetics* / Q000502:physiology; D013577:Syndrome
D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; C000625841:TGFBR1 protein, human