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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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Detalles Bibliográficos
Autores principales:	Prepeluh, Nina, Korpar, Bojan, Zagorac, Andreja, Zagradišnik, Boris, Golub, Andreja, Kokalj Vokač, Nadja
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090767/ https://www.ncbi.nlm.nih.gov/pubmed/30068298 http://dx.doi.org/10.1186/s12887-018-1234-4

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