Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
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England: BMJ Publishing Group Ltd
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English
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England: BMJ Publishing Group Ltd
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BackgroundHoloprosencephaly is a spectrum of developmental disorder of the embryonic forebrain in which there is failed or incomplete separation of the prosencephalon into two cerebral hemispheres. To date, dominant mutations in sonic hedgehog (SHH) pathway genes are the predominant Mendelian causes, and have marked interfamilial and intrafamilial...
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Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8961749
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8961749
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2020-107237
