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Article

Expanding the clinical phenotype and variant spectrum associated with RFX7.

American journal of medical genetics. Part A - 1 Dec 2024

Sisroe Talia, Santos Attila Dos, Rippert Alyssa L, Gray Christopher, Skraban Cara M, Nelson Beverly, Tefft Sarah, Helbig Ingo, Li Dong, Bhoj Elizabeth J, Sobering Andrew K

Abstract excerpt

RFX7 encodes a transcription factor that is ubiquitously expressed and important for neural development. Haploinsufficiency of RFX7 is associated with intellectual disability, developmental delay, and diverse malformations of brain structures. Currently, there are only 16 clinically described individuals who have variants in RFX7. A recognizable pattern of malformation associated with mutation in RFX7 has not yet...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39007708
DOI: 10.1002/ajmg.a.63816

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