8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the Hoxc13 gene in frogs shows its crucial role in developing skin structures similar to hair.
February 2026 in “Journal of Cutaneous and Aesthetic Surgery” Ectopic acanthosis nigricans can occur at surgical sites due to skin graft mismatches.
12 citations
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January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
63 citations
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January 1999 in “The Journal of Clinical Endocrinology & Metabolism” Polycystic ovaries and early male baldness are inherited traits.
7 citations
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September 2011 in “International Journal of Dermatology” The Korean study found that twenty-nail dystrophy mainly affects adults, more often women, and has five distinct types with different clinical progressions.
January 2026 in “Acta Dermato Venereologica” Dupilumab effectively treats severe skin issues in a rare genetic disorder.
18 citations
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March 2004 in “The Journal of Urology” Hypospadiac rats showed abnormal genital development, useful for studying human hypospadias.
1 citations
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January 2022 Autoimmune Polyendocrine Syndromes involve specific combinations of endocrine and non-endocrine autoimmune diseases.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
9 citations
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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
5 citations
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March 1981 in “PubMed” A girl grew extra hair in areas where she had insect bites.
1 citations
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January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
October 2020 in “Pediatrics in Review” The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
1 citations
,
January 1986 in “Journal of Steroid Biochemistry” Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
17 citations
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July 1984 in “British journal of dermatology/British journal of dermatology, Supplement” The four patients have a unique type of ichthyosis affecting hair follicles.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
3 citations
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
6 citations
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May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
22 citations
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March 2007 in “European journal of pediatrics” Certain types of mucopolysaccharidoses cause significant hair abnormalities.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
54 citations
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November 2001 in “Urology” The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
5 citations
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June 2008 in “British Journal of Dermatology” Onychomatricoma is a unique nail tumor, not related to other hair-related tumors.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.