2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” A small BOTOX dose improved sperm production and movement in older mice.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
April 2024 in “African Journal of Biological Sciences” The patient with lupus and Degos' disease showed significant improvement with treatment.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
November 2006 in “Reactions Weekly” A woman's hair grew back after she stopped taking the Parkinson's disease medication pramipexole.
1 citations
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January 2016 in “Journal of Nepal Paediatric Society” A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
24 citations
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June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
January 2019 in “International Journal of Clinical & Medical Images” The patient showed signs of liver disease due to alcohol use but didn't need treatment for Dupuytren’s contracture.
Smad4 is crucial for muscle repair, especially in aging, by promoting cell growth over differentiation.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
May 2025 in “The Journal of Rheumatology” Catatonia can be a rare sign of lupus, needing careful diagnosis and treatment.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
1 citations
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January 2014 in “International Journal of Trichology” A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
The man likely has secondary syphilis affecting his nervous system.
8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
15 citations
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January 2017 in “Experimental Neurology” Finasteride reduces movement issues in Parkinson's disease rats.
17 citations
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September 2000 in “Journal of dermatology” A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
14 citations
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September 2009 in “International Journal of Dermatology” DCPA is a chronic leg infection often related to Staphylococcus aureus, affecting mostly young men in India.
9 citations
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July 2010 in “British Journal of Dermatology” The document suggests a rare skin condition might be caused by a genetic phenomenon.
50 citations
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October 1986 in “European journal of pediatrics” A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
May 2025 in “The Journal of Rheumatology” Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.
1 citations
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July 2020 in “Journal of Biomedical Translational Research” Raccoon dogs can adapt well to life with three legs after forelimb amputation.
1 citations
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May 2025 in “The Journal of Rheumatology” Careful monitoring is crucial to prevent JC virus reactivation in lupus patients treated with rituximab.
8 citations
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July 2019 in “Journal of Molecular Neuroscience”