A novel pathogenic splice site variation in STK11 gene results in Peutz–Jeghers syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1729
Abstract: Peutz–Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease resulting in multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of various types of cancer, and is caused by variations in the serine/threonine… read more here.
Keywords: jeghers syndrome; novel pathogenic; splice site; site variation ... See more keywords
Anatomical site variation of water content in human skin measured by the Epsilon: A pilot study
Sign Up to like & getrecommendations! Published in 2019 at "Skin Research and Technology"
DOI: 10.1111/srt.12653
Abstract: This pilot study aimed to investigate the anatomical site variation of water content of the stratum corneum (SC) on the body by measuring skin capacitance with the Epsilon, a new generation corneometer with multiple sensors.… read more here.
Keywords: variation water; pilot study; anatomical site; water content ... See more keywords