Associated Papers
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
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
Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.
Xiao X et al.
Human Genetics, 2019
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
An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().
Chitayat D et al.
American Journal of Medical Genetics. Part A, 2018
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