Waardenburg Syndrome, Type 4
Both autosomal dominant and recessive inheritance have been reported for type 4 Waardenburg syndrome. Both heterozygous and homozygous mutations in the EDNRB (endothelin-B receptor) gene (13q22) occur...
View ArticleWaardenburg Syndrome, Type 3
The uniqueness of Waardenburg syndrome types 1 and 3 remains to be established. Mutations in the PAX3 gene are responsible for both types and both have been found in the same family. The phenotype is...
View ArticleGAPO Syndrome
GAPO occurs in both sexes. The presence of parental consanguinity in many families suggests autosomal recessive inheritance but no mutation or gene has been described.Ocular Features: Progressive...
View ArticleWaardenburg Syndrome, Type 4
Both autosomal dominant and recessive inheritance have been reported for type 4 Waardenburg syndrome. Both heterozygous and homozygous mutations in the EDNRB (endothelin-B receptor) gene (13q22) occur...
View ArticleWaardenburg Syndrome, Type 3
The uniqueness of Waardenburg syndrome types 1 and 3 remains to be established. Mutations in the PAX3 gene are responsible for both types and both have been found in the same family. The phenotype is...
View ArticleGAPO Syndrome
GAPO occurs in both sexes. Homozygous mutations in the ANTXR1 gene (2p13.3) are responsible for this disorder.Ocular Features: Progressive optic atrophy is considered part of this syndrome but it is...
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