November 2020 in “Journal of The American Academy of Dermatology” The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
May 2017 in “Journal of the American Academy of Dermatology” Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
8 citations
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July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
June 2014 in “The Journal of Dermatology” A patient with a rare chromosome condition also had a rare type of hair loss.
111 citations
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May 2001 in “Human reproduction update” Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.
50 citations
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February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
32 citations
,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
March 2024 in “Journal of Animal Reproduciton and Biotechnology” A rare fetal malformation caused difficult birth in a goat, requiring surgery.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
17 citations
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May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
November 2025 in “Journal of Medicine and Health Technology” No link between finger length ratios and color blindness was found.
May 2026 in “World Journal of Advanced Research and Reviews” A rare foot cyst was successfully diagnosed and removed without cancer.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
1 citations
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February 2022 in “Online journal of biological sciences” The document does not determine if adults with aphallia are fertile.
May 2025 in “Indian Dermatology Online Journal” Trichoscopy is crucial for diagnosing rare genetic hair disorders.
6 citations
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January 2015 in “Il Giornale di Chirurgia” Hair tourniquet syndrome can cause serious harm if not treated quickly, especially in infants.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
March 2021 in “Revista da Associação Médica Brasileira”
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
2 citations
,
August 2020 in “CRC Press eBooks” Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
10 citations
,
January 2011 in “Annals of Dermatology” A rare scalp tumor involving two hair follicles was successfully removed with surgery, with no recurrence after 7 months.
8 citations
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April 2017 in “American Journal of Dermatopathology” Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
9 citations
,
December 1987 in “Archives of Dermatology” Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.