Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14355
Abstract: We describe a patient from the 100,000 Genomes Project with a complex de novo structural variant within KMT2E leading to O'Donnell-Luria-Rodan syndrome. This case expands the mutational spectrum for this syndrome and highlights the importance… read more here.
Keywords: genome sequencing; luria rodan; rodan syndrome; donnell luria ... See more keywords