August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
26 citations,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
25 citations,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
9 citations,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
11 citations,
February 1989 in “Journal of veterinary medicine. Series A” Crossbreeding certain European cattle breeds may cause hair and physical issues in cattle.