A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).

Heathcote, K

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). [electronic resource] - Journal of medical genetics Jan 2000 - 50-1 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0022-2593

10.1136/jmg.37.1.50 doi


Amino Acid Substitution
Connexin 26
Connexins--genetics
Exons
Female
Hearing Loss, Sensorineural--genetics
Humans
Keratoderma, Palmoplantar--genetics
Male
Mutation, Missense
Pedigree
Polymorphism, Single-Stranded Conformational
Syndrome