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  Indian J Med Microbiol
 

Figure 1: Upper section: Clinical phenotype of heterozygous females for EDA pathogenic variants [Photographs are identified according to Table 1]. Note, wide forehead, scarce, and curly hair and scarce eyebrows in individual A1; wide forehead and scarce eyebrows in A2; wide forehead and high hairline in B1; wide forehead, high frontal hairline, and scarce temporal region hair are observed in E1; high hairline in forehead and scarce hair in the temporal region in F1; and scarce hair and eyebrows in F3. Dental abnormalities are observed in C1 with some of the inferior dental arch teeth showing microdontia and a conic shape (the maxillary dental arch received dental treatment). In patient D2, note, wide lips, absent maxillary left incisive tooth, and dysplasia of maxillary right incisive tooth, and in D3, inferior dental arch microdontia and central tooth diastema. Lower section: Schematic EDA diagram showing the pathogenic variants present in the six described families. Two pathogenic variants were localized in the TNF domain, two in the furin cleavage site, one in the TM domain, and one deletion identified in family A affecting exon 1. Fam: Family, TM: Transmembrane domain, TNF: Tumor necrosis factor domain

Figure 1: Upper section: Clinical phenotype of heterozygous females for <i>EDA</i> pathogenic variants [Photographs are identified according to Table 1]. Note, wide forehead, scarce, and curly hair and scarce eyebrows in individual A1; wide forehead and scarce eyebrows in A2; wide forehead and high hairline in B1; wide forehead, high frontal hairline, and scarce temporal region hair are observed in E1; high hairline in forehead and scarce hair in the temporal region in F1; and scarce hair and eyebrows in F3. Dental abnormalities are observed in C1 with some of the inferior dental arch teeth showing microdontia and a conic shape (the maxillary dental arch received dental treatment). In patient D2, note, wide lips, absent maxillary left incisive tooth, and dysplasia of maxillary right incisive tooth, and in D3, inferior dental arch microdontia and central tooth diastema. Lower section: Schematic EDA diagram showing the pathogenic variants present in the six described families. Two pathogenic variants were localized in the TNF domain, two in the furin cleavage site, one in the TM domain, and one deletion identified in family A affecting exon 1. Fam: Family, TM: Transmembrane domain, TNF: Tumor necrosis factor domain