This case report of a four-year-old girl with Nicolaides-Baraitser syndrome highlights severe atopic dermatitis and worsening alopecia, suggesting that SMARCA2 dysfunction may impact skin barrier integrity and hair health, necessitating aggressive dermatologic treatment.
20 citations
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June 2019 in “Experimental Dermatology” This study identified 14 genes affected by copy number variants that may contribute to alopecia areata, including four genes notably involved in autophagy and chromatin remodeling.
November 2008 in “Journal of the American Academy of Dermatology” 
5 citations
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May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.