Dias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report
Dias-Logan syndrome, also known as intellectual developmental disorder with persistence of fetal hemoglobin (HbF), or BCL11A -related intellectual developmental disorder, is an extremely rare neurogenetic disorder characterized by intellectual disability (ID), delayed psychomotor development, variab...
Saved in:
Main Authors: | Yizhuo Shu, Xiaoling Chen, Zhuoqun Wei, Chunyue Chen |
---|---|
Format: | Article |
Language: | English |
Published: |
SAGE Publishing
2025-01-01
|
Series: | SAGE Open Medical Case Reports |
Online Access: | https://doi.org/10.1177/2050313X251314069 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis
by: Shusuke Yagi, et al.
Published: (2024-08-01) -
Meron T. Gebreananye, Logan Williams, and Francis Watson, eds, Beyond Canon: Early Christianity and the Ethiopic Textual Tradition
by: Calum Samuelson
Published: (2023-03-01) -
Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish
by: Linxue Meng, et al.
Published: (2025-01-01) -
Barański – Dwurnik. „Warzywniak, 360°” – zapis socjologiczny
by: Patrycja Cembrzyńska
Published: (2009-03-01) -
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A
by: Shiroh Miura, et al.
Published: (2024-01-01)