A new mutation in the six-domain of SIX3 gene causes holoprosencephaly
β Scribed by Pasquier, L; Dubourg, C; Blayau, M; Lazaro, L; Le Marec, B; David, V; Odent, S
- Book ID
- 110025034
- Publisher
- Nature Publishing Group
- Year
- 2000
- Tongue
- English
- Weight
- 199 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1018-4813
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Holoprosencephaly (HPE) is a relatively common brain malformation resulting in an incomplete separation of the two cerebral hemispheres. A number of mutations in different genes have been linked to this malformation, including three missense mutations in the homeodomain of the transcription factor S
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