December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
January 2026 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” Primary cicatricial alopecia causes permanent hair loss by destroying hair follicles, and its exact cause is unknown.
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January 2009 in “Human Reproduction Update” Women with the NIH type of PCOS have more obesity and higher risk of diabetes and heart disease than those with other types of PCOS.