A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.

Youssefian, Leila

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. [electronic resource] - Human mutation 02 2019 - 217-229 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural

1098-1004

10.1002/humu.23686 doi


Animals
Connexin 26
Connexins--genetics
Hearing Loss, Bilateral--genetics
Hearing Loss, Sensorineural--genetics
Humans
Ichthyosis--genetics
Keratoderma, Palmoplantar--genetics
Metalloendopeptidases--genetics
Mutation, Missense--genetics
Oocytes--growth & development
Pedigree
Skin--metabolism
Xenopus--genetics