טוען...
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...
שמור ב:
| הוצא לאור ב: | BMC Pediatr |
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| Main Authors: | , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2018
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| נושאים: | |
| גישה מקוונת: | 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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