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Article

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

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

Leoni Chiara, Gordon Christopher T, Della Marca Giacomo, Giorgio Valentina, Onesimo Roberta, Perrino Francesca, Cianfoni Alessandro, Cerchiari Antonella, Amiel Jeanne, Zampino Giuseppe

Abstract excerpt

Auriculo-Condylar Syndrome (ACS) is a craniofacial malformation syndrome characterized by external ear anomalies, hypoplasia of the mandibular condyle, temporomandibular joint abnormalities, micrognathia, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. The clinical diagnosis is usually suggested by the pathognomonic ear...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27007857
DOI: 10.1002/ajmg.a.37625

Genes

PLCB4
EDN1
GNAI3

Provenance

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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Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.PMID 27007857Read ↗

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