A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
73 citations
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
26 citations
,
July 2020 in “Fertility and Sterility” Male infertility and genitourinary birth defects are often linked to genetic issues.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
29 citations
,
August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
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.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
August 2011 in “Reproductive Toxicology” April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
The naked mutation in mice causes hair loss and helps identify keratin genes.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
January 2026 in “Journal of Clinical and Investigative Dermatology” A father and son in Yemen have a genetic condition causing hair loss and nail problems.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
August 2019 in “Anais Brasileiros de Dermatologia” 37 citations
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January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
25 citations
,
November 2020 in “Proceedings of the National Academy of Sciences” HoxC genes are crucial for normal hair and nail development.
15 citations
,
August 1991 in “American Journal of Medical Genetics” A special diet can fix hair problems in argininosuccinase deficiency.
2 citations
,
August 1993 in “Archives of Dermatology” A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.
58 citations
,
November 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The Foxn1 gene is essential for normal nail and hair development.
73 citations
,
May 2009 in “Proceedings of the National Academy of Sciences” Disrupting the Sox21 gene in mice causes hair loss and regrowth cycles.
23 citations
,
August 1975 in “Experimental Biology and Medicine” Copper supplements during pregnancy improve survival and development in mutant mice.
2 citations
,
August 2021 in “Animal Cells and Systems” Egfl6 is not needed for zebrafish face development.
29 citations
,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
4 citations
,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
1 citations
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February 2004 in “Journal of The European Academy of Dermatology and Venereology” Hair loss improved with treatment and successful transplant.