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Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes
One of the most perplexing questions in clinical genetics is why patients with identical gene mutations oftentimes exhibit radically different clinical features. This inconsistency between genotype and phenotype is illustrated in the malformation spectrum of holoprosencephaly (HPE). Family members c...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
2004
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC506789/ https://ncbi.nlm.nih.gov/pubmed/15314685 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200419596 |
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