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A Novel SIX3 Mutation Segregates With Holoprosencephaly in a Large Family
Holoprosencephaly is the most common structural malformation of the forebrain in humans and has a complex etiology including chromosomal aberrations, single gene mutations and environmental components. Here we present the pertinent clinical findings among members of an unusually large kindred ascert...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2737713/ https://ncbi.nlm.nih.gov/pubmed/19353631 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32813 |
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