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Article

Expansion of Phenotyping and Genotypic Spectra of KIF7 -Related Intellectual Disability: Case Report and Review of Literature.

American journal of medical genetics. Part A - 1 Jan 2026

Wongong Rutairat, Od-Ek Phichittra, Kamolvisit Wuttichart, Shotelersuk Vorasuk

Abstract excerpt

Neurodevelopmental disorders (NDDs), which typically emerge in childhood, affect nervous system development. Recent studies have linked KIF7 mutations, which disrupt the Hedgehog signaling pathway essential for embryonic development, to certain features of NDDs. Here, we report two male siblings with intellectual disability, short stature, macrocephaly, epilepsy, Dandy-Walker malformation, dysmorphic facial...

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Identifiers

PMID: 40935806
DOI: 10.1002/ajmg.a.64244

Genes

KIF7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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