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Article

Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

Pediatric neurology - 1 Dec 2013

Hellman-Aharony Shlomit, Smirin-Yosef Pola, Halevy Ayelet, Pasmanik-Chor Metsada, Yeheskel Adva, Har-Zahav Adi, Maya Idit, Straussberg Rachel, Dahary Dvir, Haviv Ami, Shohat Mordechai, Basel-Vanagaite Lina

Abstract excerpt

BACKGROUND: The combination of microcephaly, pyramidal signs, abnormal corpus callosum, and intellectual disability presents a diagnostic challenge. We describe an autosomal recessive disorder characterized by microcephaly, pyramidal signs, thin corpus callosum, and intellectual disability. METHODS: We previously mapped the locus for this disorder to 8q23.2-q24.12; the candidate region included 22 genes. We...

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Source

Identifiers

PMID: 24084144
DOI: 10.1016/j.pediatrneurol.2013.07.017

Genes

TAF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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