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Article

Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome.

American journal of medical genetics. Part A - 1 Feb 2023

Franco Elena, Scanga Hannah L, Nischal Ken K

Abstract excerpt

To describe the anterior segment (AS) findings in patients with microphthalmia with linear skin defects syndrome (MLS), also known as microphthalmia, dermal aplasia, and sclerocornea (MIDAS). A retrospective chart review was conducted to identify patients with a diagnosis of MLS syndrome seen at UPMC Children's Hospital of Pittsburgh. Ophthalmic examination, high-frequency ultrasound, AS optical coherence...

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Identifiers

PMID: 36369709
DOI: 10.1002/ajmg.a.63043

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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