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Article

A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q.

American journal of medical genetics. Part A - 1 Mar 2017

Xie Lulu, Luo Xianqiong, Yang Jie, Wang Junping, Nie Chuan, Wang Zhu

Abstract excerpt

Toriello-Carey syndrome (T-CS), which was first described by Toriello and Carey, is a rare multiple congenital anomaly syndrome characterized by agenesis of the corpus callosum, Pierre Robin sequence, unusual facial appearance, and other anomalies. Tracheal or laryngeal anomalies are reported as a common manifestation of T-CS. These anomalies can lead to respiratory distress and respiratory tract infection. The...

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Identifiers

PMID: 27748028
DOI: 10.1002/ajmg.a.38009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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