4 citations
,
September 2018 in “Journal of Drug Delivery and Therapeutics” PCOS is a common hormonal disorder in women linked to several health risks and can be managed through various treatments.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
Defective protein folding due to a mutation is key in ANE syndrome.
The AMHR2-482A>G gene change is linked to higher PCOS risk.
January 2026 in “Cosmoderma” A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
24 citations
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January 2004 in “The scientific world journal/TheScientificWorldjournal” HAIR-AN syndrome is common in young women and can be effectively managed with a comprehensive treatment plan.
3 citations
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December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
July 2023 in “Journal of Controversies in Obstetrics & Gynecology and Pediatrics” Polycystic ovary syndrome is a common hormonal disorder in women that affects health and fertility.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
1 citations
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May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
April 2026 in “Diagnostics” Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
December 2024 in “Frontiers in Genetics” EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
12 citations
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January 2016 in “Endocrinology, diabetes & metabolism case reports” Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
20 citations
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February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
59 citations
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September 2021 in “Journal of Allergy and Clinical Immunology” Netherton syndrome has two subtypes with shared immune traits but different allergic and immune responses, suggesting targeted treatments.
17 citations
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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.
1 citations
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November 2021 in “Biomedicines” Understanding how acne develops in different diseases could lead to new treatments.
9 citations
,
August 2002 in “British journal of ophthalmology” The document reports a rare case of ECCL with a new association with optic disc colobomas.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
1 citations
,
October 2019 in “International journal of contemporary pediatrics” A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
21 citations
,
September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
1 citations
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December 2013 in “BMJ case reports” A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
November 2011 in “Pediatric dermatology” Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.
November 2019 in “European journal of internal medicine” A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
April 2024 in “Anais Brasileiros de Dermatologia” 4 citations
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February 2011 in “Annals of internal medicine” The document concludes that Polycystic Ovary Syndrome is a commonly underdiagnosed hormonal disorder in women, diagnosed by specific criteria.
January 2023 in “World Journal of Clinical & Medical Images” Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
2 citations
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August 2014 in “Archivos argentinos de pediatría” A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
2 citations
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January 1970 in “Asian journal of pharmaceutical research and development” PCOS is a hormonal disorder affecting many women, leading to symptoms like acne and irregular periods, and increasing the risk of diabetes and heart disease.