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Article

A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.

Journal of medical genetics - 1 Dec 2013

Elliott Alison M, Simard Louise R, Coghlan Gail, Chudley Albert E, Chodirker Bernard N, Greenberg Cheryl R, Burch Tanya, Ly Valentina, Hatch Grant M, Zelinski Teresa

Abstract excerpt

BACKGROUND: Ritscher-Schinzel syndrome (RSS) is a clinically heterogeneous disorder characterised by distinctive craniofacial features in addition to cerebellar and cardiac anomalies. It has been described in different populations and is presumed to follow autosomal recessive inheritance. In an effort to identify the underlying genetic cause of RSS, affected individuals from a First Nations (FN) community in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24065355
DOI: 10.1136/jmedgenet-2013-101715

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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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