Article
Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome.
American journal of medical genetics. Part A - 1 Dec 2020
Somashekar Puneeth H, Upadhyai Priyanka, Narayanan Dhanya L, Kamath Nutan, Bajaj Shruti, Girisha Katta M, Shukla Anju
Abstract excerpt
Waardenburg syndrome subtypes 1 and 3 are caused by pathogenic variants in PAX3. We investigated 12 individuals from four unrelated families clinically diagnosed with Waardenburg syndrome type 1/3. Novel pathogenic variants identified in PAX3 included single nucleotide variants (c.166C>T, c.829C>T), a 2-base pair deletion (c.366_367delAA) and a multi-exonic deletion. Two novel variants, c.166C>T and c.829C>T and...
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