124 citations
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July 1997 in “Journal of Biological Chemistry” Overexpressing a specific enzyme in mice causes hair loss and female infertility.
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August 2005 in “Journal of Pediatric Gastroenterology and Nutrition” The toddler's health issues were caused by too much vitamin A from supplements.
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June 1983 in “Archives of Dermatology” Aminopterin effectively improves skin conditions but has toxic side effects that need careful monitoring.
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January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
11 citations
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September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
103 citations
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January 2011 in “Blood” Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
19 citations
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April 2016 in “Case Reports in Dermatology” Nilotinib can cause keratosis pilaris, a skin condition.
June 2026 in “World Journal of Clinical Pediatrics” Early diagnosis and tailored treatment improve outcomes for non-nutritional rickets.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
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January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
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January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
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March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
12 citations
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June 2006 in “Pediatric blood & cancer” A 16-year-old boy had pernicious anemia, autoimmune hemolytic anemia, and later developed alopecia areata.
August 2024 in “Veterinary Dermatology” Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
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January 2013 in “Indian Journal of Endocrinology and Metabolism” A woman with a rare adrenal tumor and hormonal disorder had improved testosterone levels after surgery, but her menstrual irregularities continued.
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
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July 2019 in “Journal of Investigative Dermatology” Lack of a key enzyme causes severe skin issues and death in mice.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
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December 2012 in “Arquivos Brasileiros De Endocrinologia E Metabologia” A postmenopausal woman's masculine symptoms improved after surgery for a hormone-producing ovarian tumor.
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January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
October 2025 in “Journal of the Endocrine Society” A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
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February 2015 in “Cellular immunology” Deleting Snai2 and Snai3 causes fatal autoimmunity.
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November 1946 in “Journal of the American Medical Association” Severe vitamin deficiencies in children can cause significant hair problems.
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
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June 1950 in “American journal of diseases of children” Aminopterin was somewhat effective in acute lymphoblastic leukemia in children but did not increase survival time.