Novel Variant in SOX5 Gene Pathogenic for Lamb–Shaffer Syndrome Co-existing with 7q35-7q36.3 Deletion in a Child with Developmental Delay: A Case Report from India
Background: Lamb–Shaffer syndrome (LAMSHF) is a rare neurodevelopmental disorder with dysmorphic features and skeletal abnormalities caused by a mutation in the SOX5 gene on chromosome 12p.12. Clinical Description: A 10-month-old female infant presented with fever and fast breathing, associated with...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2025-04-01
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| Series: | Indian Pediatrics Case Reports |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ipcares.ipcares_203_24 |
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