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Article

Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1).

American journal of medical genetics. Part A - 1 Aug 2006

Chinen Yasutsugu, Kaname Tadashi, Yanagi Kumiko, Saito Nakamichi, Naritomi Kenji, Ohta Takao

Abstract excerpt

Opitz trigonocephaly C syndrome (OTCS) is a multiple congenital anomaly syndrome characterized by trigonocephaly, mental retardation, a typical facial appearance, redundant skin, joint and limb abnormalities, and visceral anomalies. We describe a patient with the manifestations of OTCS who also had a de novo balanced reciprocal translocation t(3;18)(q13.13q12.1). His phenotype is a mild form with mild...

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Identifiers

PMID: 16835930
DOI: 10.1002/ajmg.a.31341

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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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