November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
69 citations
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January 2005 in “The Journals of Gerontology Series A” Short telomeres may cause symptoms like hair loss and osteoporosis, offering insights into aging.
80 citations
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March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.