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Article

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.

Clinical dysmorphology - 1 Oct 2016

Casey Jillian, Jenkinson Allan, Magee Alex, Ennis Sean, Monavari Ahmad, Green Andrew, Lynch Sally A, Crushell Ellen, Hughes Joanne

Abstract excerpt

We report a female child from an Irish Traveller family presenting with severe intellectual disability, dysmorphic features, renal anomalies, dental caries and cyclical vomiting. Current health issues include global developmental delay, mild concentric left ventricular hypertrophy, dental malocclusion and caries and a single duplex left kidney. The proband and her mother also have multiple epiphyseal dysplasia....

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Source

Identifiers

PMID: 27295358
DOI: 10.1097/MCD.0000000000000134

Genes

THOC6

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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