Condition: WAARDENBURG SYNDROME, TYPE IIE


rs750566714 in POLR2F;SOX10 gene and WAARDENBURG SYNDROME, TYPE IIE PMID 10441344 1999 A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

PMID 17999358 2007 Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

PMID 21898658 2011 Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

rs74315515 in SOX10;POLR2F gene and WAARDENBURG SYNDROME, TYPE IIE PMID 10441344 1999 A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

PMID 21898658 2011 Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

PMID 17999358 2007 Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.