20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
64 citations
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January 2002 in “American Journal of Clinical Dermatology” Some patients taking antipsychotic medications experience skin reactions, ranging from mild to severe.
17 citations
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May 2008 in “Pharmacopsychiatry” Finasteride improved symptoms in a schizophrenia patient.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
3 citations
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July 2012 in “Indian Journal of Psychological Medicine” Olanzapine helped a man who thought he had bugs on his skin.
3 citations
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April 2010 in “Clinical Neuropharmacology” Finasteride helps treat eyelid spasms.
January 2025 in “Scholars Journal of Medical Case Reports” Quetiapine may cause hair loss.
August 2003 in “International Journal of Cosmetic Surgery and Aesthetic Dermatology” Disposable instruments could be the future of hair restoration surgery to eliminate disease risk, but they require careful preparation and proper training.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
5 citations
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September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
5 citations
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January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
15 citations
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March 2024 in “Journal of Clinical Medicine” Selumetinib causes skin and hair side effects in kids with NF1, affecting treatment and quality of life.
5 citations
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April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
1 citations
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
November 2006 in “Reactions Weekly” A woman's hair grew back after she stopped taking the Parkinson's disease medication pramipexole.
October 2022 in “Amplla Editora eBooks” Deep Brain Stimulation helps manage Parkinson's symptoms when medication isn't enough.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
PIKFyve is essential for normal platelet function and its deficiency causes organ issues and macrophage infiltration.
37 citations
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June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
11 citations
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March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
4 citations
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November 2001 in “Journal of Neuropsychiatry” Divalproex sodium can sometimes worsen behavior in some patients.
23 citations
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November 2024 in “Nature”
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
October 2024 in “Journal of the Endocrine Society” Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.