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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Main Authors: Nina Prepeluh (Author), Bojan Korpar (Author), Andreja Zagorac (Author), Boris Zagradišnik (Author), Andreja Golub (Author), Nadja Kokalj Vokač (Author)
Format: Book
Published: BMC, 2018-08-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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