36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
30 citations
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October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
12 citations
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September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
12 citations
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September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
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.
10 citations
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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.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
5 citations
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January 1970 in “Journal of Nepal Paediatric Society” Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
October 2023 in “Scientific Reports” Gene therapy helped rats with a specific type of rickets grow hair without severe inflammation.
47 citations
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October 1989 in “European Journal of Pediatrics” Two siblings stayed rickets-free for 14 years after stopping treatment.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
May 2025 in “Hormone Research in Paediatrics” Persistent hyperparathyroidism doesn't stop rickets healing or phosphate level normalization in VDDR2A.
519 citations
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October 1998 in “Endocrinology” Diet can prevent bone issues but not hair loss in mice lacking vitamin D receptors.
119 citations
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October 1998 in “Endocrinology” Diet can prevent bone issues but not hair loss in mice lacking vitamin D receptors.
52 citations
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August 1993 in “Clinical endocrinology” Intravenous and oral calcium effectively treated vitamin D dependent rickets type II, improving growth and bone health.
10 citations
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September 1991 in “Journal of Dermatological Science”
6 citations
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August 1989 in “European journal of pediatrics” Child with rickets improved with a specific vitamin D therapy, but alopecia did not change.
170 citations
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May 1979 in “The journal of pediatrics/The Journal of pediatrics” Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
23 citations
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October 2009 in “Gastroenterology” Vitamin D is crucial for bone health and preventing serious diseases.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
10 citations
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February 2008 in “Photochemistry and photobiology” Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
1308 citations
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March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
277 citations
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July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.