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Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly
Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans. sporadic and inherited mutations in the human sonic hedgehog (SHH) gene cause 37% of familial HPE. A couple was referred to our unit with a family history of two spontaneous first trimester miscar...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi Publishing Corporation
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447223/ https://www.ncbi.nlm.nih.gov/pubmed/23074678 http://dx.doi.org/10.1155/2011/703497 |