The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities

The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities

Jacobsen syndrome (JS) is a rare contiguous gene deletion disorder characterized by a deletion at the terminal end of the long arm of chromosome 11. JS has various phenotypic features, such as neurodevelopmental delays and congenital heart defects. Furthermore, deletion mutations in the long arm of...

Full description

Saved in:
Bibliographic Details
Main Authors: Ghazaleh Ghorbannezhad, Reza Nejad Shahrokh Abadi, Farrokh Seilanian Toosi, Shima Shekari, Saeedeh Sadat Mirtooni, Narges Hashemi
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Brain Disorders
Subjects:
Jacobsen syndrome
White matter abnormality
MLC
Neuro-radiology
Online Access:http://www.sciencedirect.com/science/article/pii/S266645932500006X
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

http://www.sciencedirect.com/science/article/pii/S266645932500006X

Similar Items