Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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We identified two homozygous truncating variants in
GON4L
[NM_001282860.2:c.62_63del, p.(Gln21Argfs*12) and c.5517+1G>A] in two unrelated families who presented prenatal-onset growth impairment, microcephaly, characteristic face,
situs inversus
, and developmental delay. The frameshift variant is predicted to invoke nonsense-mediated mR...
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Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities
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TN_cdi_doaj_primary_oai_doaj_org_article_78ad9cb14b8248b387af6b361cbefd48
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_78ad9cb14b8248b387af6b361cbefd48
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ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-024-00437-5
