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Article

Case Reviews for Two Families With Unique Variants in TBX22 Causing Abruzzo-Erickson Syndrome.

American journal of medical genetics. Part A - 1 Jun 2026

Smith Kamerin, Abruzzo Michael A, Erickson Robert P, Thomas Amy, Kukolich Mary

Abstract excerpt

The purpose of this study is to explore the phenotypic spectrum observed in individuals and between families with confirmed variants in the T-Box Transcription Factor 22 gene (TBX22). Pathogenic variants in TBX22 have been identified in individuals with classic X-linked cleft palate (CPX) and also in Abruzzo-Erickson Syndrome (ABERS). We compare the phenotypic features of a newly suspected family with ABERS to...

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Source

Identifiers

PMID: 41630180
DOI: 10.1002/ajmga.70066

Genes

TBX22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Case Reviews for Two Families With Unique Variants in TBX22 Causing Abruzzo-Erickson Syndrome.PMID 41630180Read ↗

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