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This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.

The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.

This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.

This article reports a case of a 19-month-old boy with scalp erythematous papules and hair loss, showing no improvement with initial treatment.

This report on a case of alopecia areata in a mother and daughter with a 16-year gap suggests genetic predisposition and environmental triggers rather than direct transmission.