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Holoprosencephaly–polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature

Patients with a combination of holoprosencephaly and polydactyly, but with apparently normal chromosomes, may be clinically diagnosed with holoprosencephaly–polydactyly syndrome (HPS), also termed pseudotrisomy 13. However, the criteria for HPS have been controversial since the advent of the diagnos...

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Autors principals: Bous, Sophia M., Solomon, Benjamin D., Graul-Neumann, Luitgard, Neitzel, Heidemarie, Hardisty, Emily E., Muenke, Maximilian
Format: Artigo
Idioma:Inglês
Publicat: 2012
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4131985/
https://ncbi.nlm.nih.gov/pubmed/22643382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MCD.0b013e3283551fd0
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