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: | , , , |
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Format: | Article |
Language: | English |
Published: |
SAGE Publishing
2025-01-01
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Series: | SAGE Open Medical Case Reports |
Online Access: | https://doi.org/10.1177/2050313X251314069 |
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