August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
November 1993 in “Hair transplant forum international” The document's conclusion cannot be provided because the document is not readable or understandable.
April 2025 in “International Journal of General Medicine” The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
The document's conclusion cannot be provided because the document is not available or cannot be read.
July 2025 in “Journal of Investigative Dermatology” TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
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 2022 in “Hair transplant forum international” The document's conclusion cannot be provided because the content is not available.
March 2023 in “Zenodo (CERN European Organization for Nuclear Research)” May 2018 in “Dermatologic Surgery” July 2025 in “Journal of the European Academy of Dermatology and Venereology” 5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
August 2011 in “SpringerReference” 2 citations
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March 1986 in “BMJ” January 2016 in “ISBN: 978-84-608-9184-0”
March 2024 in “Research Square (Research Square)” The TT genotype of a specific SNP in sheep is linked to better wool quality.
January 2014 in “Reactions Weekly” August 2011 in “Reactions Weekly” December 2024 in “Reactions Weekly”