Associated Papers
Biallelic variants in PAX3 cause Klein syndrome.
Salah S et al.
Clinical Genetics, 2022
Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.
Stevenson RE et al.
American Journal of Medical Genetics. Part A, 2018
A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis.
Mousty E et al.
Prenatal Diagnosis, 2015
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
Otręba M et al.
Postepy Higieny I Medycyny Doswiadczalnej (online), 2013
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?
Tekin M et al.
Clinical Genetics, 2001
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