Elsevier
Pediatric Neurology
,  volume 165 ,  pages 43-51

The Clinical and Molecular Spectrum of Patients with X-linked Intellectual Disability and Novel Variations in Different Genes

Semra Gürsoy 1
, 
Ceren Yılmaz Uzman 2
, 
Kadri Murat Erdoğan 3
, 
Pakize Karaoğlu 4
, 
Tuba Sözen Türk 3
, 
Ünsal Yılmaz 4
, 
Aycan Ünalp 4
, 
Filiz Hazan 5
1
 
2
 
3
 
4
 
5
 
Publication type: Journal Article
Publication date: 2025-04-01
Elsevier
scimago Q1
wos Q2
SJR: 0.825
CiteScore: 3.9
Impact factor: 2.1
ISSN: 08878994, 18735150
Abstract
BackgroundX-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. In this study, we aimed to describe the clinical and molecular spectrum of patients with XLID. We also evaluated the clinical efficacy of a targeted gene panel in patients with suspected XLID.
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Gürsoy S. et al. The Clinical and Molecular Spectrum of Patients with X-linked Intellectual Disability and Novel Variations in Different Genes // Pediatric Neurology. 2025. Vol. 165. pp. 43-51.
GOST all authors (up to 50) Copy
Gürsoy S., Yılmaz Uzman C., Erdoğan K. M., Karaoğlu P., Sözen Türk T., Yılmaz Ü., Ünalp A., Hazan F. The Clinical and Molecular Spectrum of Patients with X-linked Intellectual Disability and Novel Variations in Different Genes // Pediatric Neurology. 2025. Vol. 165. pp. 43-51.
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RIS Copy
TY - JOUR
DO - 10.1016/j.pediatrneurol.2025.01.016
UR - https://linkinghub.elsevier.com/retrieve/pii/S0887899425000244
TI - The Clinical and Molecular Spectrum of Patients with X-linked Intellectual Disability and Novel Variations in Different Genes
T2 - Pediatric Neurology
AU - Gürsoy, Semra
AU - Yılmaz Uzman, Ceren
AU - Erdoğan, Kadri Murat
AU - Karaoğlu, Pakize
AU - Sözen Türk, Tuba
AU - Yılmaz, Ünsal
AU - Ünalp, Aycan
AU - Hazan, Filiz
PY - 2025
DA - 2025/04/01
PB - Elsevier
SP - 43-51
VL - 165
SN - 0887-8994
SN - 1873-5150
ER -
BibTex
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@article{2025_Gürsoy,
author = {Semra Gürsoy and Ceren Yılmaz Uzman and Kadri Murat Erdoğan and Pakize Karaoğlu and Tuba Sözen Türk and Ünsal Yılmaz and Aycan Ünalp and Filiz Hazan},
title = {The Clinical and Molecular Spectrum of Patients with X-linked Intellectual Disability and Novel Variations in Different Genes},
journal = {Pediatric Neurology},
year = {2025},
volume = {165},
publisher = {Elsevier},
month = {apr},
url = {https://linkinghub.elsevier.com/retrieve/pii/S0887899425000244},
pages = {43--51},
doi = {10.1016/j.pediatrneurol.2025.01.016}
}