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Holoprosencephaly due to Numeric Chromosome Abnormalities

Holoprosencephaly (HPE) is the most common malformation of the human forebrain. When a clinician identifies a patient with HPE, a routine chromosome analysis is often the first genetic test sent for laboratory analysis in order to assess for a structural or numerical chromosome anomaly. An abnormali...

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Autores principales: Solomon, Benjamin D., Rosenbaum, Kenneth N., Meck, Jeanne M., Muenke, Maximilian
Formato: Artigo
Lenguaje:Inglês
Publicado: 2010
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2815046/
https://ncbi.nlm.nih.gov/pubmed/20104610
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30232
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