1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
November 2023 in “British Journal of Dermatology” Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
1947 citations
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September 1995 in “New England journal of medicine/The New England journal of medicine” PCOS is a common hormonal disorder causing irregular periods and increased hair growth, linked to insulin resistance and long-term health issues.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
February 2022 in “Mediators of Inflammation” Women with Polycystic Ovary Syndrome (PCOS) have lower levels of a substance called DIAPH1 in their blood, which is linked to changes in sugar metabolism and insulin resistance.
13 citations
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October 2000 in “International Journal of Dermatology” A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
99 citations
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May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
28 citations
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August 2001 in “Journal of cutaneous medicine and surgery” People with Down's syndrome often have more skin problems due to a weak immune system.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
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.
January 2025 in “Directory of Open access Books (OAPEN Foundation)” PCOS affects women's hormones and metabolism, but can be managed with lifestyle changes and treatments.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
9 citations
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July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
33 citations
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May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
February 2026 in “Research Society and Development” PCOS is a common disorder in women causing symptoms like irregular periods and infertility, and requires early diagnosis and treatment.
34 citations
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February 2016 in “Fertility and Sterility” More PDCD4 is linked to obesity, insulin problems, and cell death in ovaries for those with polycystic ovary syndrome.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
18 citations
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December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
March 2021 in “Serbian Journal of Experimental and Clinical Research” PCOS is a complex hormonal disorder with no clear cause or single diagnostic test, and current treatments focus on symptoms.
February 2026 in “Advanced Science” Targeting the p300/AR axis may help treat polycystic ovary syndrome.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
25 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
18 citations
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July 2019 in “Clinical Endocrinology” Women with PCOS in Sicily show different levels of metabolic problems depending on their PCOS type, with obesity and abnormal lipid profiles being common.
11 citations
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November 2017 in “Hong Kong Medical Journal” Polycystic ovary syndrome increases the risk of diabetes, heart disease, and endometrial cancer, and requires early treatment to manage these risks.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
12 citations
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January 2013 in “Indian dermatology online journal” The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
December 2021 in “THE THERAPIST (Journal of Therapies & Rehabilitation Sciences)” PCOS is common, affects fertility, and needs early diagnosis and lifestyle changes for management.