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De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate

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Year: 2014
Type: article
Study design: Case Report
Source: Birth Defects Research Part A Clinical and Molecular Teratology
DOI: 10.1002/bdra.23246
Authors: Carole Goumy, Mathilde Gay‐Bellile, Eléonore Eymard‐Pierre, Stephan Kemeny, Laetitia Gouas, Pierre Déchelotte, Denis Gallot, Lauren Véronèse, Andrei Tchirkov, Céline Pebrel‐Richard, Philippe Vago
Institutions: Centre Hospitalier Universitaire de Clermont-Ferrand, Université de Clermont I
Language: English

Topic: Genomic variations and chromosomal abnormalities
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funder: Core Research for Evolutional Science and Technology
OpenAlex ID: W1520003471
FWCI: 1.012
Cites: 21
Cited by: 19
Related to: 10
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