Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. Am J Med Genet A. 2020 05; 182(5):1143-1151.

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subject areas

Cell Cycle Proteins
Chromosome Aberrations
Chromosomes
De Lange Syndrome
Genetic Predisposition to Disease
Humans
Infant
Male
Translocation, Genetic
Whole Genome Sequencing

authors with profiles

JAMES LUPSKI