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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:IdLiteratureReference:2453832
_displayNameMutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
_timestamp2012-08-17 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
journalAm. J. Hum. Genet.
pages550-60
pubMedIdentifier17273977
titleMutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
volume80
year2007
(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)