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Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans and is typically characterized by different degrees of hemispheric separation that are often accompanied by similarly variable degrees of craniofacial and midline anomalies. HPE is a classic exam...

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Autores principales: Pineda-Alvarez, Daniel E., Dubourg, Christèle, David, Véronique, Roessler, Erich, Muenke, Maximilian
Formato: Artigo
Lenguaje:Inglês
Publicado: 2010
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2815008/
https://ncbi.nlm.nih.gov/pubmed/20104604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30253
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