Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder
Raynaud-Claes syndrome is rare condition characterized with intellectual disability and is caused by X-linked pathogenic variants in CLCN4 gene. Hemizygous missense variant NM_001830.4: c.1597G>A (p.V533M) was detected in a 6-year-old male followed up with intellectual disability, dysmorphism, an...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2024-03-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2023-0013 |