Associated Papers
Biallelic variants in PAX3 cause Klein syndrome.
Salah S et al.
Clinical Genetics, 2022
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Narayanan DL et al.
European Journal of Human Genetics : Ejhg, 2021
Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome.
Somashekar PH et al.
American Journal of Medical Genetics. Part A, 2020
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