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
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