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Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly
Holoprosencephaly (HPE) is a clinically variable and genetically heterogeneous central nervous system (CNS) malformation. Alobar HPE, which is its most severe form, is associated with a poor prognosis. At the milder end of the HPE spectrum microcephaly, hypotelorism, and single central maxillary inc...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2002
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1719149/ https://ncbi.nlm.nih.gov/pubmed/11919111 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.86.4.293 |
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