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A mosaic form of microphthalmia with linear skin defects
BACKGROUND: Microphthalmia with linear skin defects (MLS) syndrome is a rare neurodevelopmental X-dominant disorder. It presents in females as it is normally lethal in males. Three causative genes for MLS syndrome (OMIM 309801) have been identified all taking part in mitochondrial respiratory chain...
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| Veröffentlicht in: | BMC Pediatr |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6090767/ https://ncbi.nlm.nih.gov/pubmed/30068298 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-018-1234-4 |
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