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Article

Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery - 1 Oct 2005

Turhani Dritan, Item Chike B, Watzinger Elisabeth, Sinko Klaus, Watzinger Franz, Lauer Guenter, Ewers Rolf

Abstract excerpt

INTRODUCTION: Non-syndromic cleft lip with or without cleft palate (CL/P), is one of the most common birth defects, but its aetiology is largely unknown. The aim of this study was to determine the sequence changes of the Cleft Lip and Palate Transmembrane Protein 1 (CLPTM 1) and Poliovirus Receptor Related 1 (PVRL 1) genes in patients with non-syndromic complete clefts of lip, alveolus and palate and to correlate...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16122939
DOI: 10.1016/j.jcms.2005.04.004

Genes

CLPTM1

Provenance

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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Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate.PMID 16122939Read ↗

Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate.Semantic proximity Read ↗

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PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations.Semantic proximity Read ↗

PVRL1 as a candidate gene for nonsyndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in southern Han Chinese patients.Semantic proximity Read ↗

The complex genetics of cleft lip and palate.Semantic proximity Read ↗

Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate.Semantic proximity Read ↗

Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.Semantic proximity Read ↗

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