Connexin-26-mutation bei "keratitis-ichthyosis-deafness"-syndrom (KID-syndrom)

Keyphrases

• Connexin 26 100%
• Keratitis-ichthyosis-deafness Syndrome 100%
• Clinical Course 40%
• Heterozygous mutation 40%
• Missense mutation 20%
• Autosomal Dominant 20%
• Genomic DNA (gDNA) 20%
• Rare Disorders 20%
• GJB2 20%
• Dominant mutation 20%
• Peripheral Blood 20%
• Spontaneous mutation 20%

Biochemistry, Genetics and Molecular Biology

• Connexin 100%
• Genomics 25%
• Missense Mutation 25%
• Autosomal Dominant Inheritance 25%
• GJB2 25%
• Spontaneous Mutation 25%