De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.

Alvarez, Araceli

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome. [electronic resource] - American journal of medical genetics. Part A Feb 2003 - 89-91 p. digital

Publication Type: Case Reports; Letter

1552-4825

10.1002/ajmg.a.10851 doi


Abnormalities, Multiple--genetics
Adolescent
Amino Acid Sequence
Base Sequence
Connexin 26
Connexins--genetics
DNA--chemistry
DNA Mutational Analysis
Deafness--pathology
Family Health
Female
Humans
Ichthyosis--pathology
Keratitis--pathology
Molecular Sequence Data
Mutation
Pedigree
Sequence Homology, Amino Acid
Syndrome