Associated Papers
Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.
Jeong R et al.
Npj Genomic Medicine, 2025
MYRF Variants in Patients With 46,XY Differences/Disorders of Sex Development and Literature Review.
Zhang W et al.
American Journal of Medical Genetics. Part A, 2025
Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.
Jeong R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
MYRF-related mild encephalopathy with reversible myelin vacuolization: a case report and literature review.
Yao S et al.
Frontiers in Genetics, 2023
Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant.
Gupta N et al.
American Journal of Medical Genetics. Part A, 2022
Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature.
Wang H et al.
Frontiers in Pediatrics, 2022
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Rossetti LZ et al.
American Journal of Medical Genetics. Part A, 2019
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H et al.
Plos Genetics, 2018
Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects.
Fan C et al.
The Journal of Biological Chemistry, 0
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