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.
12 citations
,
September 2017 in “JDR Clinical & Translational Research” In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.
34 citations
,
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
,
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.
6 citations
,
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.