research 303 The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank November 2022 in “Journal of Investigative Dermatology” Rare genetic variants in 125 genes are linked to male-pattern hair loss.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm 26 citations , December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Pearly Pinna Papules in a Young Female October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research The Genetics of Human Skin Disease 24 citations , October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities 6 citations , May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.