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Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b3970c6881ab49c4a520b80ed0ce7f6e

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

Pogo transposable element derived with ZNF domain (
POGZ
) has been identified as one of the most recurrently de novo mutated genes in patients with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), intellectual disability and White-Sutton syndrome; however, the neurobiological basis behind these disorders remains...

Alternative Titles

Full title

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_b3970c6881ab49c4a520b80ed0ce7f6e

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b3970c6881ab49c4a520b80ed0ce7f6e

Other Identifiers

ISSN

2041-1723

E-ISSN

2041-1723

DOI

10.1038/s41467-020-14697-z

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