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Article

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

American journal of human genetics - 1 Nov 2006

Wimplinger Isabella, Morleo Manuela, Rosenberger Georg, Iaconis Daniela, Orth Ulrike, Meinecke Peter, Lerer Israela, Ballabio Andrea, Gal Andreas, Franco Brunella, Kutsche Kerstin

Abstract excerpt

The microphthalmia with linear skin defects syndrome (MLS, or MIDAS) is an X-linked dominant male-lethal disorder almost invariably associated with segmental monosomy of the Xp22 region. In two female patients, from two families, with MLS and a normal karyotype, we identified heterozygous de novo...

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Source

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Identifiers

PMID: 17033964
DOI: 10.1086/508474
PMCID: PMC1698567

Genes

HCCS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17033964-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.PMID 17033964Read ↗

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