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Article

Novel fetal phenotype of TAF8 deficiency.

European journal of human genetics : EJHG - 1 Jan 2025

Nadav Golan, Odeh Marwan, Mesika Aviv, Abarbanel Har-Tal Yael, Goldfeld Moshe, Zalatkin Tania, Livoff Alejandro, Khoury Raghad Jeris, Sgayer Inshirah, Ben-Sira Liat, Kalfon Limor, Falik-Zaccai Tzipora C

Abstract excerpt

TAF8 is part of the transcription factor TFIID complex. TFIID is crucial for recruiting the transcription factor complex containing RNA polymerase II. TAF8 deficiency was recently reported as causing a severe neurodevelopmental disorder in eight patients. We have ascertained three Muslim Arab couples with fetal brain malformations. Clinical, imaging, pathological, biochemical, and molecular analyses were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39169228
DOI: 10.1038/s41431-024-01679-8
PMCID: PMC11711379

Genes

TAF8

Provenance

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