Zygosity-Dependent Phenotypic Spectrum of -Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 Kindreds.

Biglari S, Rezaei H, Asadollahzadeh E, Asl M S, Galehdari H, Garshasbi M, Esmaeilzadeh E, Khalesi R, Jamali P, Parvini F, et al.

Hum Mutat. 2026; 2026:9993570. PMID: 42761500. Abstract