Moustafa Abdelaal Hegazi Sommen Manou Hazem Sakr Guy Van Camp
10.1590/abd1806-4841.20176235
An Bras Dermatol
2017;92(5 Suppl 1):154-158.
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/29267478/
Hearing Loss, Sensorineural / genetics Hearing Loss, Sensorineural / pathology Keratoderma, Palmoplantar / genetics Keratoderma, Palmoplantar / pathology Mutation / genetics
Hearing Loss, Sensorineural / genetics Hearing Loss, Sensorineural / pathology Keratoderma, Palmoplantar / genetics Keratoderma, Palmoplantar / pathology Mutation / genetics Case Reports Adolescent Biopsy Child Exome Sequencing Female Humans Male Siblings Syndrome Palmoplantar Keratoderma with Deafness
PMC5726709
29267478
Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations
2017