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Article

A mosaic form of microphthalmia with linear skin defects.

BMC pediatrics - 1 Aug 2018

Prepeluh Nina, Korpar Bojan, Zagorac Andreja, Zagradišnik Boris, Golub Andreja, Kokalj Vokač Nadja

Abstract excerpt

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 and oxidative phosphorylation. In our case, we describe a newborn with mosaic deletion encompassing HCCS gene...

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Topics

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Share to Chromosomes, Human, X
Share to Gene Deletion
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Infant, Newborn

Share to Microphthalmos

Share to Mosaicism

Share to Skin Abnormalities

Source

Open in PubMed Open full text

Identifiers

PMID: 30068298
DOI: 10.1186/s12887-018-1234-4
PMCID: PMC6090767

Genes

HCCS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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