7 citations,
October 2013 in “Methods in molecular biology” These methods help understand DNA changes in mouse skin.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
8 citations,
April 2015 in “British Journal of Dermatology” White piedra, a rare fungal infection, was diagnosed in two women in a northern climate.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.