Condition: Klein's Syndrome
rs104893651 in
CCDC140;PAX3 gene and
Klein's Syndrome
PMID 12949970 2003 Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
PMID 7726174 1995 Homozygosity for Waardenburg syndrome.
PMID 8447316 1993 Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
rs104893654 in
PAX3;CCDC140 gene and
Klein's Syndrome
PMID 8447316 1993 Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
PMID 12949970 2003 Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
PMID 7726174 1995 Homozygosity for Waardenburg syndrome.
rs1228590199 in
PAX3;LOC107985991 gene and
Klein's Syndrome
PMID 8447316 1993 Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
PMID 7726174 1995 Homozygosity for Waardenburg syndrome.
PMID 12949970 2003 Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.