Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene.
Isidor
B
B
Service de Génétique Médicale, Nantes University Hospital, Nantes, France. bertrand.isidor@chu-nantes.fr
Podevin
G
G
Camby
C
C
Mosnier
J-F
JF
Chauty
A
A
Lyet
J-M
JM
Fergelot
P
P
Lacombe
D
D
Arveiler
B
B
Pelet
A
A
Amiel
J
J
David
A
A
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*
D050882:CREB-Binding Protein; C494363:CREBBP protein, human