1 citations
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August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
10 citations
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January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
4 citations
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January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
April 2021 in “MEDICINUS” Acrodermatitis enteropathica can occur even with normal zinc levels, and zinc supplements can improve symptoms.
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.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
February 2025 in “Cureus” Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
4 citations
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May 1958 in “Journal of Investigative Dermatology”
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
3 citations
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June 2025 in “Frontiers in Nutrition” Zinc effectively treats most children with acrodermatitis enteropathica, but underlying metabolic issues may require additional management.
1 citations
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July 2024 in “International Journal of Dermatology Venereology and Leprosy Sciences” Cysteine strengthens hair, and glutamine fuels hair growth.
4 citations
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January 2018 in “Urology & Nephrology Open Access Journal” Hair dye chemicals can cause serious health problems, including kidney damage.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
24 citations
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
March 2017 in “Iraqi Journal of Pharmaceutical Sciences” Abuse of anabolic steroids in Iraqi athletes leads to negative effects on hormones, liver and kidney function, blood sugar, and cholesterol levels.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The research identified unique metabolic activities in immune cells associated with hair loss in Alopecia Areata.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
12 citations
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February 1986 in “PubMed” Injecting newborn mice with a niacin blocker caused skin, gut, and brain damage similar to human pellagra.
19 citations
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November 1971 in “Clinica Chimica Acta” The document concludes that measuring γ-glutamyl transpeptidase activity is more accurate with a higher substrate concentration and using diluted acetic acid to stop the reaction.
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
42 citations
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April 2013 in “Steroids” Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
1 citations
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January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
An infant with a zinc deficiency skin disorder improved with zinc treatment.
April 2025 in “BMC Urology” Thorough evaluations and conservative management can lead to positive outcomes in pediatric adrenocortical carcinoma.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
11 citations
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September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.