New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cas...
New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases
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Author / Creator
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 and Odent, Sylvie
Publisher
London: BMJ Publishing Group Ltd
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Language
English
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Publisher
London: BMJ Publishing Group Ltd
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Contents
BackgroundHoloprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon.MethodsA large European series of 645 HPE probands (and 699 relatives), consisting of 51% fetuses and 49% liveborn children, is reported.ResultsMutations in the four main genes involved in HPE (SHH, ZIC2...
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Full title
New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3386902
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3386902
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2011-100339
