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Details on Person Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
| Class:Id | LiteratureReference:2453832 |
| _displayName | Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation |
| _timestamp | 2012-08-17 13:26:43 |
| author | [Person:2453869] Pasutto, Francesca [Person:2453889] Sticht, Heinrich [Person:2453911] Hammersen, Gerhard [Person:2453910] Gillessen-Kaesbach, Gabriele [Person:196405] FitzPatrick, DR [Person:2453871] Nürnberg, Gudrun [Person:2453898] Brasch, Frank [Person:2453857] Schirmer-Zimmermann, Heidemarie [Person:2453899] Tolmie, John L [Person:2453884] Chitayat, David [Person:2453851] Houge, Gunnar [Person:2453849] Fernández-Martínez, Lorena [Person:2453852] Keating, Sarah [Person:2453816] Mortier, Geert [Person:194679] Hennekam, RC [Person:2453879] von der Wense, Axel [Person:2453870] Slavotinek, Anne [Person:2453843] Meinecke, Peter [Person:2453866] Bitoun, Pierre [Person:2453882] Becker, Christian [Person:1979982] Nürnberg, P [Person:2453894] Reis, André [Person:2453901] Rauch, Anita |
| created | [InstanceEdit:2453822] Jassal, Bijay, 2012-08-17 |
| journal | Am. J. Hum. Genet. |
| pages | 550-60 |
| pubMedIdentifier | 17273977 |
| title | Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation |
| volume | 80 |
| year | 2007 |
| (literatureReference) | [FailedReaction:2453818] Defective STRA6 does not transport atROL [Homo sapiens] |
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No pathways have been reviewed or authored by Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation (2453832)