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Article

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.

American journal of medical genetics. Part A - 1 Apr 2018

Pinz Hailey, Pyle Louise C, Li Dong, Izumi Kosuke, Skraban Cara, Tarpinian Jennifer, Braddock Stephen R, Telegrafi Aida, Monaghan Kristin G, Zackai Elaine, Bhoj Elizabeth J

Abstract excerpt

Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of the expression of myelin-related genes. However, it is highly expressed in human tissues and mouse embryonic tissues outside the nervous system such as the stomach, lung, and small intestine. It has not previously been reported as a cause of any Mendelian disease. We report here two males with...

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Identifiers

PMID: 29446546
DOI: 10.1002/ajmg.a.38620
PMCID: PMC5867271

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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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