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Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.

American journal of medical genetics. Part A - 1 Apr 2022

Peart Lé Shon, Gonzalez Joanna, Bivona Stephanie, Latchman Kumarie, Torres Leonardo, Tekin Mustafa

Abstract excerpt

Auriculocondylar syndrome (ARCND) is characterized by a distinguished feature of question mark ears and a variation of other minor and major malformations. Monoallelic or biallelic PLCB4 variants have been reported in a subset of affected individuals, referred to as ARCND2. We report on a 3-year-old female with ARCND who presented at birth with question mark ears, micrognathia, and bilateral choanal stenosis that...

Topics

Choanal Atresia
Constriction, Pathologic
Ear
Ear Diseases
Female
GTP-Binding Protein alpha Subunits, Gi-Go
Humans
Mutation
Pedigree
Phospholipase C beta

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34995019
DOI: 10.1002/ajmg.a.62634

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.PMID 34995019Read ↗

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