47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
June 2022 in “Dermatologic Therapy” Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.
April 2023 in “Journal of Investigative Dermatology” LSD1 is essential for healthy skin development and creating the skin's protective barrier.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
1 citations
,
September 2002 in “European Journal of Endocrinology” Triple H syndrome exists and can vary in symptoms.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
March 2012 in “Journal of The American Academy of Dermatology” Hand-foot-mouth disease may cause nail loss in children.
1 citations
,
May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
59 citations
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May 2017 in “Scientific reports” ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
19 citations
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August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
64 citations
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August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
January 2021 in “İzmir Dr.Behçet Uz çocuk hastanesi dergisi” Children with Alopecia Areata often have lower vitamin D and B12 levels and higher thyroid activity.
1 citations
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June 2021 in “Cureus” A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
25 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
1 citations
,
August 2018 in “Journal of the American Academy of Dermatology” Children with autoimmune hair loss have similar vitamin D levels to healthy kids, suggesting no extra screening is needed.
7 citations
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February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
January 2025 in “Indian Dermatology Online Journal” Early diagnosis and aggressive treatment are essential for managing Vogt-Koyanagi-Harada syndrome effectively.
32 citations
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January 1971 in “Annals of Internal Medicine” People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
1 citations
,
September 2007 in “Neuromuscular disorders” The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.
April 2016 in “Journal of The American Academy of Dermatology” Low-cost videomicroscopes might not be reliable for examining scalp disorders compared to standard methods.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
20 citations
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February 2018 in “Journal of the European Academy of Dermatology and Venereology” Topical vitamin C may help treat skin fragility in the elderly.
6 citations
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July 2020 in “Photodermatology Photoimmunology & Photomedicine” Early diagnosis of skin conditions linked to rickets is crucial to prevent growth and bone issues.
October 2024 in “Frontiers in Nutrition” Vitamin D deficiency is common in people with certain types of hair loss, like alopecia areata and female pattern hair loss.
9 citations
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September 1989 in “PubMed” Sudanese children with severe malnutrition have low selenium levels, which may affect their recovery.
November 2024 in “Journal of Medical and Life Science” Vitamin D and Zinc deficiencies can cause various symptoms, but supplements and lifestyle changes can improve them.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
81 citations
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January 2006 in “Journal of cellular physiology” Mice without the vitamin D receptor gene lose hair due to disrupted hair follicle cycles.