MIRAGE syndrome: a case report of de novo SAMD9 c.884del p.(Pro295GlnfsTer104) variant and a novel phenotype of pyloric stenosis
Abstract Background MIRAGE syndrome is a rare multisystem disorder characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy, resulting from mutations in the SAMD9 gene. This syndrome is notably rare, with fewer than 60 documented cases g...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-01-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-024-00630-2 |
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