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Article

A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.

European journal of medical genetics - 1 Apr 2013

Izzo Giselle, Freitas Érika L, Krepischi Ana Cristina V, Pearson Peter L, Vasques Luciana R, Passos-Bueno Maria Rita S, Bertola Débora R, Rosenberg Carla

Abstract excerpt

We report a 10-year-old boy with syndromic cleft lip and palate (CLP) and neuro-psychomotor developmental delay. Oligoarray comparative genomic hybridization (aCGH) detected an approximately 300 kb interstitial microduplication at 5p15.33 encompassing 5 protein-coding genes, including TERT and CLPTM1L, and two microRNA genes. Our findings suggest that the duplicated segment predisposes for cleft lip with or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23395979
DOI: 10.1016/j.ejmg.2013.01.002

Genes

TERT

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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