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Holoprosencephaly-polydactyly syndrome: in search of an etiology
Holoprosencephaly-Polydactyly (HPS) or Pseudotrisomy 13 syndrome are names conferred to clinically categorize patients whose phenotype is congruent with Trisomy 13 in the context of a normal karyotype. The literature suggests that this entity may be secondary to submicroscopic deletions in HPE genes...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2441840/ https://ncbi.nlm.nih.gov/pubmed/18178536 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2007.08.004 |
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