This report describes a case of Goltz syndrome in a 12-year-old Saudi girl, highlighting the variability in symptoms and the importance of documenting such rare syndromes.
34 citations
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December 2009 in “The International Journal of Developmental Biology” In this study, thymosin beta4 over-expression in transgenic mice was linked to accelerated hair growth and abnormal tooth development, suggesting roles in hair and tooth physiology.
22 citations
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June 2020 in “iScience” This study found that disrupting Sox21 in developing teeth leads to severe enamel hypoplasia, regional osteoporosis, and abnormal hair formation, with impaired dental epithelial differentiation and regulation of hair follicle cell fate.
1 citations
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June 2023 in “Medicina” In this study, all 26 patients with epidermolysis bullosa were found to have extensive dental caries, with various dental and oral complications varying by EB type, due in part to inadequate oral care and associated physical limitations.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.