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 Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Connexin 26 (GJB2) Mutations in Keratitis–Ichthyosis–Deafness Syndrome Presenting with Squamous Cell Carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Mutation-Specific siRNA Knockdown of GJB2: Potential Gene Therapy for Keratitis-Ichthyosis-Deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research Stabilizing Mutations of KLHL24 Ubiquitin Ligase Cause Loss of Keratin 14 and Human Skin Fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
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