Rubinstein–Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene
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P. Fergelot | D. Lacombe | J. Mosnier | B. Isidor | B. Arveiler | J. Amiel | A. David | A. Chauty | A. Pelet | G. Podevin | C. Camby | J-M Lyet