Associated Papers
A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis.
Mousty E et al.
Prenatal Diagnosis, 2015
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.
Bondurand N et al.
Human Molecular Genetics, 2000
Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).
Hol FA et al.
Human Mutation, 1998
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