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Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular hetero...

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular hetero...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0e4cc75ac4f7488c9bc12cc444e98502

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

About this item

Full title

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

Publisher

England: BioMed Central Ltd

Journal title

BMC medical genomics, 2021-02, Vol.14 (1), p.64-7, Article 64

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH.
We report a fetus with extensive posterior PNH in association with...

Alternative Titles

Full title

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_0e4cc75ac4f7488c9bc12cc444e98502

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0e4cc75ac4f7488c9bc12cc444e98502

Other Identifiers

ISSN

1755-8794

E-ISSN

1755-8794

DOI

10.1186/s12920-021-00911-4

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