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
Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000549
Abstract: Paroxysmal kinesigenic dyskinesia (PKD) (MIM# 128200) is a movement disorder characterized by brief episodes of involuntary movements consisting of dystonia, chorea, or myoclonus, usually triggered by sudden voluntary movements.1 Pathogenic variants in PRRT2 (MIM# 614386),… read more here.
Keywords: duplication syndrome; paroxysmal kinesigenic; chromosome 16p11; kinesigenic dyskinesia ... See more keywords