Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome

ABSTRACT Background Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth failure and multisystemic degeneration. Excision repair cross‐complementation group 6 (ERCC6 OMIM: *609413) is the gene most frequently mutated in CS. Methods A child with pre and postnatal grow...

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Bibliographic Details
Main Authors: Jennifer Friedman, Lynne M. Bird, Richard Haas, Shira L. Robbins, Shareef A. Nahas, David P. Dimmock, Matthew J. Yousefzadeh, Mariah A. Witt, Laura J. Niedernhofer, Shimul Chowdhury
Format: Article
Language:English
Published: Wiley 2021-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cockayne syndrome
DNA repair
ERCC6
whole‐genome sequencing
Online Access:https://doi.org/10.1002/mgg3.1623

Internet

https://doi.org/10.1002/mgg3.1623

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