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Article

Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation.

American journal of medical genetics. Part A - 1 Nov 2010

Rijntjes-Jacobs Esther G J, Lopriore Enrico, Steggerda Sylke J, Kant Sarina G, Walther Frans J

Abstract excerpt

The Schimmelpenning-Feuerstein-Mims (SFM) syndrome comprises a craniofacial nevus sebaceus, seizures, developmental delay, ocular and skeletal abnormalities. It is a sporadic condition and hypothesized to result from mosaicism involving a lethal autosomal dominant gene. We report a second occurre...

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Source

Identifiers

PMID: 20949522
DOI: 10.1002/ajmg.a.33635

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20949522-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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