title: No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome.
authors.forename: Armand
authors.initials: A
authors.lastname: Bottani
authors.forename: Bruno
authors.initials: B
authors.lastname: Pardo
authors.forename: Isabelle
authors.initials: I
authors.lastname: Bouchardy
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Schoumans
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Bernard
authors.initials: B
authors.lastname: Conrad
mesh_terms: 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
chemical_list: 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