1 citations,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
19 citations,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
9 citations,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
2 citations,
April 2018 in “Journal of Investigative Dermatology” The conclusion is that differentiating wound types in RDEB patients is important for clinical trials and understanding the disease.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.