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Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene

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Bibliographic Details
Published in:	American journal of medical genetics. Part A 2010-07, Vol.152A (7), p.1847-1848
Main Authors:	Isidor, B., Podevin, G., Camby, C., Mosnier, J.-F., Chauty, A., Lyet, J.-M., Fergelot, P., Lacombe, D., Arveiler, B., Pelet, A., Amiel, J., David, A.
Format:	Article
Language:	English
Subjects:	Biological and medical sciences CREB-Binding Protein - genetics Diseases of the osteoarticular system Female Gastroenterology. Liver. Pancreas. Abdomen Genetics Hirschsprung Disease - complications Hirschsprung Disease - genetics Humans Infant, Newborn Life Sciences Male Malformations Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical genetics Medical sciences Pregnancy Rubinstein-Taybi Syndrome - complications Rubinstein-Taybi Syndrome - genetics Sequence Deletion - genetics Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
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