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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Vydáno v:BMC Pediatr
Hlavní autoři: Prepeluh, Nina, Korpar, Bojan, Zagorac, Andreja, Zagradišnik, Boris, Golub, Andreja, Kokalj Vokač, Nadja
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
Case Report
On-line přístup: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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