title: Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene.
authors.affiliation: Service de Génétique Médicale, Nantes University Hospital, Nantes, France. bertrand.isidor@chu-nantes.fr
authors.forename: B
authors.initials: B
authors.lastname: Isidor
authors.forename: G
authors.initials: G
authors.lastname: Podevin
authors.forename: C
authors.initials: C
authors.lastname: Camby
authors.forename: J-F
authors.initials: JF
authors.lastname: Mosnier
authors.forename: A
authors.initials: A
authors.lastname: Chauty
authors.forename: J-M
authors.initials: JM
authors.lastname: Lyet
authors.forename: P
authors.initials: P
authors.lastname: Fergelot
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: B
authors.initials: B
authors.lastname: Arveiler
authors.forename: A
authors.initials: A
authors.lastname: Pelet
authors.forename: J
authors.initials: J
authors.lastname: Amiel
authors.forename: A
authors.initials: A
authors.lastname: David
mesh_terms: D050882:CREB-Binding Protein / Q000235:genetics*; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D012415:Rubinstein-Taybi Syndrome / Q000150:complications* / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D050882:CREB-Binding Protein; C494363:CREBBP protein, human