research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
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research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
This study reports on Clouston syndrome, a rare genetic condition, in a Malaysian-Chinese family across six generations. The condition, characterized by alopecia, nail dystrophy, and palmoplantar keratoderma, was confirmed through genetic testing to be caused by a heterozygous mutation c.263C>T (A88V) in the GJB6 gene. The study highlights the autosomal dominant inheritance pattern and the importance of genetic counseling, as no treatment is currently available. The findings contribute to the understanding of genotype-phenotype correlations in Clouston syndrome.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Clouston’s Syndrome: A Rare Case Report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
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