10 citations
,
January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
61 citations
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September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
26 citations
,
January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
74 citations
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
34 citations
,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
January 2025 in “Clinical Case Reports” Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
16 citations
,
September 2019 in “Journal of biological chemistry/The Journal of biological chemistry” Mice without certain skin enzymes have faster hair growth and bigger eye glands.
October 2014 in “Transfusion Clinique et Biologique” Iron deficiency can cause fatigue, exercise intolerance, and cognitive issues, even without anemia.
1 citations
,
November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
54 citations
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January 1983 in “Archives of Dermatology” KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
5 citations
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January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
34 citations
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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.
2 citations
,
October 1961 in “Experimental Biology and Medicine” Natural feedstuffs help reduce muscular dystrophy in rabbits more than selenium or vitamin E alone.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
47 citations
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September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
1 citations
,
January 2015 in “Journal of clinical case reports” KFSD causes scarring hair loss and skin roughness, mainly in males.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
175 citations
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August 1997 in “Nature Genetics” The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.