New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

BACKGROUND: Holoprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon. METHODS: We report a large European series of 645 HPE probands (and 699 relatives), consisting of 51% foetuses and 49% liveborn children. RESULTS: Mut...

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Autores principales: Mercier, Sandra, Dubourg, Christèle, Garcelon, Nicolas, Campillo-Gimenez, Boris, Gicquel, Isabelle, Belleguic, Marion, Ratié, Leslie, Pasquier, Laurent, Loget, Philippe, Bendavid, Claude, Jaillard, Sylvie, Rochard, Lucie, Quélin, Chloé, Dupé, Valérie, David, Véronique, Odent, Sylvie
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2011
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3386902/
https://ncbi.nlm.nih.gov/pubmed/21940735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2011-100339
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