Rare dosage abnormalities flanking the SHOX gene

Rare dosage abnormalities flanking the SHOX gene

Abstract Background Transcriptional regulation of the SHOX gene is highly complex. Much of our understanding has come from the study of copy number changes of conserved non-coding sequences both upstream and downstream of the gene. Downstream deletions have been frequently reported in patients with...

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Bibliographic Details
Main Authors: David J. Bunyan, Evelien Gevers, James I. Hobbs, Philippa J. Duncan-Flavell, Rachel J. Howarth, Muriel Holder-Espinasse, Philippe Klee, Roxane Van-Heurk, Laure Lemmens, Maria Teresa Carminho-Rodrigues, Zainaba Mohamed, Aruna Goturu, Claire R. Hughes, Michal Ajzensztejn, N. Simon Thomas
Format: Article
Language:English
Published: SpringerOpen 2021-12-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
SHOX
Regulatory element
Deletion
Duplication
Online Access:https://doi.org/10.1186/s43042-021-00209-1

Internet

https://doi.org/10.1186/s43042-021-00209-1

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