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Displaying 2 results.

- Journal article
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
Pasutto, Francesca Sticht, Heinrich Hammersen, Gerhard Gillessen-Kaesbach, Gabriele FitzPatrick, David R. Nuernberg, Gudrun Brasch, Frank Schirmer-Zimmermann, Heidemarie Tolmie, John L. Chitayat, David Houge, Gunnar Fernandez-Martinez, Lorena Keating, Sarah Mortier, Geert Hennekam, Raoul C. M. von der Wense, Axel Slavotinek, Anne Meinecke, Peter Bitoun, Pierre Becker, Christian Nuernberg, Peter Reis, Andre Rauch, Anita (2007) American Journal of Human Genetics — Vol. 80, no. 3, p. 550-560 (2007)
- Journal article
Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies.
Göhring, Ina Tagariello, Andreas Endele, Sabine Stolt, Claus C Ghassibé, Michella[UCL] Fisher, Malcolm Thiel, Christian T. Trautmann, Udo Vikkula, Miikka[UCL] Winterpacht, Andreas FitzPatrick, David R. Rauch, Anita (2009) Journal of medical genetics — Vol. 47, no. 2, p. 91-8 (2010)