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A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss and palmoplantar keratoderma
Ichthyosis follicularis, a distinct cutaneous entity reported in combination with atrichia, and photophobia has been associated with mutations in MBTPS2. We sought the genetic cause of a novel syndrome of ichthyosis follicularis, bilateral severe sensorineural hearing loss and punctate palmoplantar...
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| Опубликовано в: : | Hum Mutat |
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| Главные авторы: | , , , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2018
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6481180/ https://ncbi.nlm.nih.gov/pubmed/30431684 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23686 |
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