308 citations
,
December 2018 in “PLOS Genetics” The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
40 citations
,
January 2013 in “Frontiers in Endocrinology” Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.
38 citations
,
May 2006 in “Archives of Gynecology and Obstetrics” Women with only irregular periods or excess hair have a better hormone profile than those with full PCOS, but both groups are similar, indicating a need for better PCOS diagnosis methods.
30 citations
,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
10 citations
,
May 2017 in “Symmetry” Higher androgen levels are linked to less asymmetry in !Kung San males.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
2 citations
,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
May 2026 in “International Journal of Veterinary Science” Higher dihydrotestosterone levels reduce crowing complexity in Kokok Balenggek roosters.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
6 citations
,
December 2015 in “International journal of immunopathology and pharmacology” AE can have varied symptoms and genetic causes, but zinc therapy helps.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
August 2024 in “International Journal of Women’s Dermatology” Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
33 citations
,
March 1994 in “PubMed” High ODC and low K1 and K10 may indicate early skin tumors in mice.
10 citations
,
January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
13 citations
,
July 2012 in “International Journal of Trichology” TTD symptoms vary widely, requiring thorough evaluations.
1 citations
,
July 2022 in “International Journal of Rheumatic Diseases” People with ankylosing spondylitis in Taiwan don't have a higher chance of getting alopecia.
May 2026 in “Electronic Journal of General Medicine” Irisin and betatrophin levels change differently in PCOS, which may help assess metabolic risks.
April 2026 in “Diagnostics” PRP treatment improves chronic tendinopathy, and imaging biomarkers can track tendon changes.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
62 citations
,
March 2011 in “European journal of endocrinology” Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
29 citations
,
December 2017 in “International Journal of Dermatology” People with alopecia areata often have lower vitamin D levels, which are linked to more severe and longer-lasting hair loss, but vitamin D receptor levels in the skin don't show the same pattern and don't predict treatment success.
403 citations
,
December 2018 in “Cell stem cell” Understanding phenotypic plasticity is crucial for developing effective cancer therapies.
32 citations
,
April 2016 in “Journal of Obstetrics and Gynaecology Research” Women with severe types of PCOS are more likely to have metabolic syndrome, and belly fat is a key predictor of this risk.
28 citations
,
April 2013 in “Fertility and Sterility” Caucasian and Asian women with PCOS generally show similar symptoms, except Asian women have less chest hair.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.