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<i>De novo</i> variants in <i>LDB1</i> are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms

2026-02-28

Abstract excerpt

LDB1 encodes transcriptional regulator protein LIM-domain-binding protein 1, which plays an important role in neurogenesis. Few C-terminal likely gene disrupting (LGD) variants have been reported in the literature in individuals with congenital ventriculomegaly. Through international collaboration, we now assembled a cohort of 16 individuals with de novo variants affecting various regions of LDB1. Eleven variant...

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Literature Corpus work
a24da03a-446a-5f40-a669-007196c07bad
DOI
10.64898/2026.02.26.26347174
Open publication

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<i>De novo</i> variants in <i>LDB1</i> are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanismsDOI 10.64898/2026.02.26.26347174
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