May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
1 citations
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February 2025 in “Medicina” No significant genetic link to alopecia areata was found in the Jordanian group.
1 citations
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October 2019 in “International Journal of Dermatology and Venereology” Zebrafish help understand genetic causes of skin pigment disorders like albinism.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
8 citations
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October 2023 in “Frontiers in Immunology” Certain cytokines may cause or be affected by immune skin diseases, suggesting possible new treatments.
May 2021 in “GSC Advanced Research and Reviews” Hair color is influenced by genetics and can indicate certain health conditions.
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
1 citations
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September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
185 citations
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December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
November 2022 in “Journal of Investigative Dermatology” Rare genetic variants in 125 genes are linked to male-pattern hair loss.
June 2024 in “Research Square (Research Square)” Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
19 citations
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March 2011 in “The Journal of Dermatology” A child's rare skin disease was triggered by chickenpox.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
November 2024 in “Elsevier eBooks”
1 citations
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September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
1 citations
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August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
1 citations
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May 2023 in “Cell reports medicine” Sons of mothers with polycystic ovary syndrome (PCOS) have a higher risk of obesity and insulin resistance, possibly due to certain genes and factors passed down from their mothers.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
9 citations
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May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.