research Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
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research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Pathogenic Variants Affecting Peptidyl Arginine Deiminase 3 and Its Major Substrates Underlie Central Centrifugal Cicatricial Alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research Pathogenic Variants Affecting Peptidyl Arginine Deiminase 3 and Its Major Substrates Underlie Central Centrifugal Cicatricial Alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
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