Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Damián A, Ionescu RO, Rodríguez de Alba M, Tamayo A, Trujillo-Tiebas MJ, Cotarelo-Pérez MC, Pérez Rodríguez O, Villaverde C, de la Fuente L, Romero R, Núñez-Moreno G, Mínguez P, Ayuso C, Cortón M.
Damián A, et al. Among authors: rodriguez de alba m.
Int J Mol Sci. 2021 Nov 24;22(23):12713. doi: 10.3390/ijms222312713.
Int J Mol Sci. 2021.
PMID: 34884523
Free PMC article.