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...
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| 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 |
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