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Article

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.

American journal of medical genetics. Part A - 1 Aug 2016

De Maria Beatrice, Mazzanti Laura, Roche Nathalie, Hennekam Raoul C

Abstract excerpt

Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or insufficient data for reliable confirmation of the diagnosis. There remain 16 reliably diagnosed individuals with BSS and 16...

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Source

Identifiers

PMID: 27196381
DOI: 10.1002/ajmg.a.37757

Genes

TWIST2

Provenance

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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