17273977 |
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
Becker, C,
Houge, G,
Mortier, G,
Fernández-Martínez, L,
Keating, S,
Chitayat, D,
FitzPatrick, DR,
Meinecke, P,
Hennekam, RC,
Gillessen-Kaesbach, G,
von der Wense, A,
Hammersen, G,
Nürnberg, P,
Bitoun, P,
Brasch, F,
Tolmie, JL,
Slavotinek, A,
Nürnberg, G,
Rauch, A,
Pasutto, F,
Schirmer-Zimmermann, H,
Sticht, H,
Reis, A
|
Am. J. Hum. Genet. |
2007 |
19309693 |
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia
Attié-Bitach, T,
Martinovic-Bouriel, J,
Calvas, P,
Masini, L,
Manouvrier-Hanu, S,
Vigouroux, A,
Delezoide, AL,
Tiziano, FD,
Maragliano, G,
Piro, F,
Lequeux, L,
Odent, S,
Golzio, C,
Chassaing, N,
Etchevers, HC
|
Hum. Mutat. |
2009 |