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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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| Published in: | American journal of medical genetics. Part A 2010-07, Vol.152A (7), p.1847-1848 |
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| Main Authors: | , , , , , , , , , , , |
| Format: | Article |
| Language: | English |
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| cited_by | cdi_FETCH-LOGICAL-c4680-5e0e46fd0fff31ea80fa2e752e1b9c9cb0147046883139f5d8c42863945a3d433 |
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| cites | cdi_FETCH-LOGICAL-c4680-5e0e46fd0fff31ea80fa2e752e1b9c9cb0147046883139f5d8c42863945a3d433 |
| container_end_page | 1848 |
| container_issue | 7 |
| container_start_page | 1847 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 152A |
| creator | 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. |
| description | |
| doi_str_mv | 10.1002/ajmg.a.33480 |
| format | article |
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Part A</title><addtitle>Am. J. Med. Genet</addtitle><subject>Biological and medical sciences</subject><subject>CREB-Binding Protein - genetics</subject><subject>Diseases of the osteoarticular system</subject><subject>Female</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Genetics</subject><subject>Hirschsprung Disease - complications</subject><subject>Hirschsprung Disease - genetics</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Malformations</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Pregnancy</subject><subject>Rubinstein-Taybi Syndrome - complications</subject><subject>Rubinstein-Taybi Syndrome - genetics</subject><subject>Sequence Deletion - genetics</subject><subject>Stomach. Duodenum. Small intestine. Colon. 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Liver. Pancreas. Abdomen</topic><topic>Genetics</topic><topic>Hirschsprung Disease - complications</topic><topic>Hirschsprung Disease - genetics</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Life Sciences</topic><topic>Male</topic><topic>Malformations</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Pregnancy</topic><topic>Rubinstein-Taybi Syndrome - complications</topic><topic>Rubinstein-Taybi Syndrome - genetics</topic><topic>Sequence Deletion - genetics</topic><topic>Stomach. Duodenum. Small intestine. Colon. Rectum. 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| fulltext | fulltext |
| identifier | ISSN: 1552-4825 |
| ispartof | American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1847-1848 |
| issn | 1552-4825 1552-4833 1552-4833 |
| language | eng |
| recordid | cdi_hal_primary_oai_HAL_hal_01389202v1 |
| source | Wiley-Blackwell Read & Publish Collection |
| 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 |
| title | Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene |
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