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In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.

This study found that the weak tensile strength of pili torti hair may result from loose keratin intermediate filaments due to abnormalities in disulfide bonds.

This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.

This review proposes a classification system for childhood hair loss based on clinical appearance, age of onset, and associated symptoms, but reports no new clinical results.

This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.