216 citations
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November 1999 in “Fertility and Sterility” Testing basal 17-HP levels is a good way to screen for nonclassic adrenal hyperplasia in women with high androgen levels.
1 citations
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March 2018 in “BMJ case reports” Dilated pupils can be an early sign of HIV/AIDS.
1 citations
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February 2025 in “Journal of the Neurological Sciences” Beta-trace protein may help diagnose and predict treatment response in certain nerve disorders.
November 2024 in “Rheumatology Advances in Practice” Monitor for early signs of azathioprine toxicity and check blood counts regularly.
1 citations
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August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
31 citations
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January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
2 citations
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February 2000 in “International Journal of Dermatology” Hepatitis C and alcohol abuse may lead to porphyria cutanea tarda.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
8 citations
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August 1997 in “Australasian Journal of Dermatology” Most HIV patients develop skin symptoms that can indicate the stage of their disease.
9 citations
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March 2022 in “Terapevticheskii arkhiv” Human placenta hydrolysates help treat various diseases and aid healing.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
1 citations
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May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
13 citations
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August 1985 in “The Journal of Dermatology” HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.
October 2020 in “The American journal of gastroenterology” Para-aminobenzoic acid in hair supplements can cause autoimmune hepatitis.
May 2017 in “Journal of The American Academy of Dermatology” A woman with a skin disorder was found to have hepatitis C, which may be linked, and was safely treated with methotrexate.
October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” The patient has a rare skin condition that shows features of two known disorders.
November 2025 in “Journal of the European Academy of Dermatology and Venereology” Different types of hidradenitis suppurativa need specific treatments based on unique skin cell issues.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
17 citations
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January 2011 in “The Korean Journal of Hepatology” Vogt-Koyanagi-Harada disease can develop during interferon therapy for chronic hepatitis C.
January 2025 in “Clinical Case Reports” Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
4 citations
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October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
3 citations
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April 2012 in “Cancer research” Mouse skin cancer progression involves a unique group of cells marked by ABCG2 and MTS24.
1 citations
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January 2025 in “Frontiers in Immunology” Genetically at-risk healthy people show similar immune issues as those with Pemphigus vulgaris or Alopecia areata.
October 2023 in “The Journal of Dermatology” The HSVS-A is an effective tool for quickly screening hair shedding in Asian women.
August 2026 in “International Journal of Pharmaceutical and Clinical Research” Gene therapy and new treatments offer hope for HTRA1-related disorders.