A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. [electronic resource]
Producer: 20200309Description: 217-229 p. digitalISSN:- 1098-1004
- 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
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Publication Type: Journal Article; Research Support, N.I.H., Extramural
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