September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
5 citations,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
11 citations,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
100 citations,
December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.