1 citations
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February 1977 in “Archives of Dermatology” Fresh plasma transfusions did not help treat Leiner disease in an infant.
6 citations
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June 2019 in “International Journal of Dermatology” Frontal fibrosing alopecia has occurred in two related male families.
A hair growth ointment improved hair length in a family with a genetic hair growth condition.
5 citations
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March 2010 in “International Journal of Dermatology” Accurate diagnosis of basaloid follicular hamartoma is crucial to avoid unnecessary treatments.
5 citations
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June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
March 2025 in “FEBS Journal” Epiprofin suppresses parathyroid hormone gene activity, helping regulate calcium levels and could be a treatment target for hyperparathyroidism.
6 citations
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July 2018 in “Steroids” Testosterone changes how certain channels work in male rat reproductive tracts, affecting fertility-related fluid balance.
November 2010 in “International Journal of Developmental Neuroscience” 30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
July 2015 in “Journal of the Dermatology Nurses’ Association” A 66-year-old woman experienced hair loss due to Frontal Fibrosing Alopecia, a condition with no consistently effective treatment, but it usually stabilizes over time. More research is needed for better understanding and treatment options.
October 2024 in “Skin Appendage Disorders” Higher FABP4 levels may indicate more severe alopecia areata.
1 citations
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October 2025 in “International Journal of Molecular Sciences” Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
67 citations
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December 2008 in “Developmental Biology” Msx2 and Foxn1 are both crucial for hair growth and health.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
1 citations
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
29 citations
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January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
17 citations
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November 2015 in “Oxidative Medicine and Cellular Longevity” Fibroblast Growth Factor-9 helps repair heart damage after a heart attack by creating new blood vessels, especially in diabetics.
April 2023 in “World Journal of Advanced Research and Reviews” Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
76 citations
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May 2011 in “Cell death and differentiation” A20 protein is crucial for normal skin and hair development.
November 2018 in “Springer eBooks” Children need early diagnosis and treatment for iron-deficiency anemia to prevent learning problems and promote health.
January 2023 in “Open journal of pediatrics” A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
88 citations
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October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Patients with this syndrome can have different responses and worsening resistance to treatment over time.
September 2016 in “Journal of dermatological science” FGF18 helps hair follicles resist radiation by stopping hair growth cycles.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
4 citations
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May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
2 citations
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September 2024 in “PLoS ONE” Bendamustine combined with tucidinostat may effectively treat adult T-cell leukemia.