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Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage

ABSTRACT Background LINS1, the human homolog of the Drosophila segment polarity gene, encodes a key regulator of the Wingless/Wnt signaling pathway. While numerous genes have been implicated in intellectual disability (ID), only a limited number have been conclusively associated with autosomal reces...

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Uloženo v:
Hlavní autoři: Elham Alimoradi, Parham Nejati, Arash Salmaninejad, Nafiseh Falsafi, Fatemeh Molavi, Mohamad Javad Alibakhshi, Filippo Pinto e Vairo, Eric W. Klee, Reza Alibakhshi
Médium: Artigo
Jazyk:Inglês
Vydáno: Wiley 2026-02-01
Edice:Molecular Genetics & Genomic Medicine
Témata:
consanguineous marriage
exome sequencing
intellectual disability
LINS1
On-line přístup:https://doi.org/10.1002/mgg3.70184
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