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Article

Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.

American journal of medical genetics. Part A - 1 Jun 2007

Trzupek Karmen M, Falk Rena E, Demer Joseph L, Weleber Richard G

Abstract excerpt

Microcephaly with chorioretinopathy (OMIM 156590) is an autosomal dominant syndrome, characterized primarily by chorioretinal lesions and microcephaly. The phenotype is variable, and has been described in association with retinal dysplasia that can be stable or show progressive degeneration, reti...

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PMID: 17486591
DOI: 10.1002/ajmg.a.31717

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ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17486591-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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