November 2022 in “Journal of the Endocrine Society” A woman's masculine features were caused by a rare ovarian tumor that produced male hormones.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
1 citations
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February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
48 citations
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August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
April 2023 in “Elsevier eBooks” Men may have a condition similar to PCOS, possibly indicated by early hair loss.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
October 2025 in “Journal of the Endocrine Society” A rare ovarian tumor was found in a young woman with a genetic fat disorder.
1 citations
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January 2013 in “Pediatric Annals” The girl's thin hair was due to loose anagen syndrome, not other hair loss types.
November 2022 in “Research Square (Research Square)” Seasonal changes affect hair growth genes in Angora goats, possibly influencing mohair quality.
Defective protein folding due to a mutation is key in ANE syndrome.
89 citations
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March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
2 citations
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October 2024 in “Phenomics”
20 citations
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July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
26 citations
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October 2014 in “Andrologia” Infertile men are more likely to produce sperm with abnormal chromosome numbers, which can affect pregnancy success and embryo health.
Adolescents with PCOS have lower quality of life due to diagnosis, binge eating, and body image concerns.
April 2016 in “Journal of The American Academy of Dermatology” Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
1 citations
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October 2023 in “Biology” Fasting in hens affects thyroid hormones, which regulate feather and hair growth.
28 citations
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June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
January 2024 in “Neuroscience Applied” Oxytocin receptor changes in hair cells may help identify autism, especially in males.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
September 2020 in “Fertility and sterility” Hyperandrogenism does not affect the quality of blastocysts in PCOS patients undergoing IVF.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
January 2024 in “University of Zagreb University Computing Centre (SRCE)” Women with PCOS have different hormone levels than those without it.
July 2011 in “British Journal of Dermatology” Hormone treatment caused hair loss, finasteride helped regrowth.
Loose anagen syndrome causes easy hair shedding in children, often resolving on its own.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
47 citations
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August 2014 in “The Journal of Clinical Endocrinology and Metabolism” The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
2 citations
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August 2021 in “Australasian Journal of Dermatology” Acne in adult women is often linked to polycystic ovary syndrome, especially in those who are younger, have premenstrual acne flare-ups, and irregular periods.