research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
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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 Porokeratotic Eccrine and Hair Follicle Nevus: A Report of Two Cases and Review of the Literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research A Novel Mutation in the Connexin 26 Gene (GJB2) in a Child with Clinical and Histological Features of Keratitis-Ichthyosis-Deafness (KID) Syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
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