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

Clinical laboratory diagnostic evaluation of the genomes of children with suspected genetic disorders, including chromosomal microarray and exome sequencing, cannot detect copy number neutral genomic rearrangements such as inversions, balanced translocations and complex chromosomal rearrangements (C...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Med Genet A
Egile Nagusiak: Duvdevani, Morasha Plesser, Pettersson, Maria, Eisfeldt, Jesper, Avraham, Ortal, Dagan, Judith, Frumkin, Ayala, Lupski, James R., Lindstrand, Anna, Harel, Tamar
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2020
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7502196/
https://ncbi.nlm.nih.gov/pubmed/32125084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61539
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