Analysis of Genotype-Phenotype Correlations in Human Holoprosencephaly

Since the discovery of the first gene causing holoprosencephaly (HPE), over 500 patients with mutations in genes associated with non-chromosomal, non-syndromic HPE have been described, with detailed descriptions available in over 300. Comprehensive clinical analysis of these individuals allows exami...

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Autors principals: Solomon, Benjamin D., Mercier, Sandra, Vélez, Jorge I., Pineda-Alvarez, Daniel E., Wyllie, Adrian, Zhou, Nan, Dubourg, Christèle, David, Veronique, Odent, Sylvie, Roessler, Erich, Muenke, Maximilian
Format: Artigo
Idioma:Inglês
Publicat: 2010
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2815217/
https://ncbi.nlm.nih.gov/pubmed/20104608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30240
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