A mosaic form of microphthalmia with linear skin defects

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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Bibliographic Details
Main Authors: Nina Prepeluh, Bojan Korpar, Andreja Zagorac, Boris Zagradišnik, Andreja Golub, Nadja Kokalj Vokač
Format: Article
Language:English
Published: BMC 2018-08-01
Series:BMC Pediatrics
Subjects:
Microphthalmia
Linear skin defects
Mosaicism
Xp22.31p22.2 deletion
HSSC gene
Online Access:http://link.springer.com/article/10.1186/s12887-018-1234-4

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http://link.springer.com/article/10.1186/s12887-018-1234-4

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