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Article

The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.

European journal of human genetics : EJHG - 1 Jun 2009

Choi Sun J, Marazita Mary L, Hart P Suzanne, Sulima Pawel P, Field L Leigh, McHenry Toby Goldstein, Govil Manika, Cooper Margaret E, Letra Ariadne, Menezes Renato, Narayanan Somnya, Mansilla Maria Adela, Granjeiro José M, Vieira Alexandre R, Lidral Andrew C, Murray Jeffrey C, Hart Thomas C

Abstract excerpt

Human linkage and association studies suggest a gene(s) for nonsyndromic cleft lip with or without cleft palate (CL/P) on chromosome 4q31-q32 at or near the platelet-derived growth factor-C (PDGF-C) locus. The mouse Pdgfc(-/-) knockout shows that PDGF-C is essential for palatogenesis. To evaluate the role of PDGF-C in human clefting, we performed sequence analysis and SNP genotyping using 1048 multiplex CL/P...

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Identifiers

PMID: 19092777
DOI: 10.1038/ejhg.2008.245
PMCID: PMC2788748

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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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