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Article

R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.

Clinical dysmorphology - 1 Jan 2015

Preiksaitiene Egle, Krasovskaja Natalija, Utkus Algirdas, Kasnauskiene Jurate, Meškienė Raimonda, Paulauskiene Iveta, Valevičienė Nomeda R, Kučinskas Vaidutis

Abstract excerpt

Opitz G/BBB syndrome is a genetically heterogeneous condition, with both autosomal dominant and X-linked forms. The MID1 gene is associated with X-linked Opitz G/BBB syndrome. Most mutations identified are unique, which makes it difficult to assess possible genotype/phenotype correlations. We report on a familial c.1102C>T (p.R368X) mutation in the MID1 gene, previously reported by Cox et al. (Hum Mol Genet...

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Source

Identifiers

PMID: 25304119
DOI: 10.1097/MCD.0000000000000059

Genes

MID1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.PMID 25304119Read ↗

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