16p11.2 Microduplication and associated symptoms: A case study
Sign Up to like & getrecommendations! Published in 2018 at "Applied Neuropsychology: Child"
DOI: 10.1080/21622965.2017.1326046
Abstract: ABSTRACT The minimal amount known regarding chromosomal microduplications and microdeletions presents a fascinating new direction of research into better understanding misunderstood symptoms and overall genomic influence. Specifically, the 16p11.2 microduplication has been associated with a… read more here.
Keywords: 16p11 microduplication; microduplication; associated symptoms; microduplication associated ... See more keywords
Netherton syndrome with chromosome 16p11.2 microduplication in a Chinese infant
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Dermatology"
DOI: 10.1111/ijd.16495
Abstract: References 1 Ribero S, Glass D, Bataille V. Genetic epidemiology of melanoma. Eur J Dermatol. 2016;26(4):335–9. 2 Loney T, Paulo MS, Modenese A, Gobba F, Tenkate T, Whiteman DC, et al. Global evidence on occupational… read more here.
Keywords: netherton syndrome; dermatol; syndrome chromosome; chromosome 16p11 ... See more keywords