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Article

Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

American journal of medical genetics - 17 Sept 1999

Shotelersuk V, Tifft C J, Vacha S, Peters K F, Biesecker L G

Abstract excerpt

The oral-facial-digital syndrome type 1 (OFD1) includes limb, facial, intraoral malformations and the gene for the disorder was recently mapped to Xp22.3-p22.2. We report on monozygotic twin girls discordant for OFD1. Monozygosity is supported by placental pathology (monochorionic diamniotic) and molecular studies with probability of dizygosity <1 x 10(-6). The affected twin has oral cavity abnormalities...

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Source

Identifiers

PMID: 10482878
DOI: 10.1002/(sici)1096-8628(19990917)86:3<269::aid-ajmg14>3.0.co;2-g

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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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