A mosaic form of microphthalmia with linear skin defects
Abstract 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 respirator...
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Format: | Book |
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BMC,
2018-08-01T00:00:00Z.
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A1234.567 |
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Copy 1 | Available |