Loading...
Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant
BACKGROUND: Variants in the GJB2 gene encoding the gap junction protein connexin‐26 (Cx26) can cause autosomal recessive nonsyndromic hearing loss or a variety of phenotypically variable autosomal dominant disorders that effect skin and hearing, such as palmoplantar keratoderma (PPK) with deafness a...
Na minha lista:
| Udgivet i: | Mol Genet Genomic Med |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
John Wiley and Sons Inc.
2021
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8077155/ https://ncbi.nlm.nih.gov/pubmed/33443819 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1574 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|