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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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Detalhes bibliográficos
Publicado no:BMC Pediatr
Main Authors: Prepeluh, Nina, Korpar, Bojan, Zagorac, Andreja, Zagradišnik, Boris, Golub, Andreja, Kokalj Vokač, Nadja
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
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Acesso em linha: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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