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SOX2 anophthalmia syndrome
Ragge, Nicola K., Lorenz, Birgit, Schneider, Adele, Bushby, Kate, de Sanctis, Luisa, de Sanctis, Ugo, Salt, Alison, Collin, J. Richard O., Vivian, Anthony J., Free, Samantha L., Thompson, Pamela, Williamson, Kathleen A., Sisodiya, Sanjay M., van Heyningen, Veronica
and FitzPatrick, David R.
(2005)
SOX2 anophthalmia syndrome.
American Journal of Medical Genetics Part A 135A (1), pp. 1-7.
Date of publication of this fulltext: 19 Dec 2024 15:02
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| Item type | Article | ||||
| Journal or Publication Title | American Journal of Medical Genetics Part A | ||||
| Publisher: | WILEY-BLACKWELL | ||||
|---|---|---|---|---|---|
| Place of Publication: | HOBOKEN | ||||
| Volume: | 135A | ||||
| Number of Issue or Book Chapter: | 1 | ||||
| Page Range: | pp. 1-7 | ||||
| Date | 2005 | ||||
| Institutions | Medicine > Lehrstuhl für Augenheilkunde | ||||
| Identification Number |
| ||||
| Keywords | HOMEOBOX GENE; MICROPHTHALMIA; MUTATIONS; MALFORMATIONS; EXPRESSION; ANOMALIES; COLOBOMA; FAMILY; EYE; SOX2; anophthalmia; microphthalmia; brain malformation; microgenitalia; developmental delay; seizures | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 70734 |
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