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

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 growth fail...

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Detalles Bibliográficos
Autores principales: Friedman, Jennifer, Bird, Lynne M., Haas, Richard, Robbins, Shira L., Nahas, Shareef A., Dimmock, David P., Yousefzadeh, Matthew J., Witt, Mariah A., Niedernhofer, Laura J., Chowdhury, Shimul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372079/
https://www.ncbi.nlm.nih.gov/pubmed/34076366
http://dx.doi.org/10.1002/mgg3.1623

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