December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
November 2025 in “Indian Journal of Dermatology” This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.
January 2026 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” In this study, cicatricial alopecias were classified by inflammatory cell type and the researchers highlighted that primary cicatricial alopecia's exact causes remain unknown, accounting for 6% of all hair diseases despite its unclear prevalence.
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January 2009 in “Human Reproduction Update” This study reports that NIH PCOS is linked to more severe metabolic issues, including higher obesity and insulin resistance, compared to non-NIH PCOS phenotypes.