Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models.

doi:10.1038/s41431-024-01775-9

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Article

Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models.

European journal of human genetics : EJHG - 1 May 2025

Ishorst Nina, Hölzel Selina, Greve Carola, Yilmaz Öznur, Lindenberg Tobias, Lambertz Jessica, Drichel Dmitriy, Zametica Berina, Mingardo Enrico, Kalanithy Jeshurun C, Channab Khadija, Kibris Duygu, Henne Sabrina, Degenhardt Franziska, Siewert Anna, Dixon Michael, Kruse Teresa, Ongkosuwito Edwin, Girisha Katta M, Pande Shruti, Nowak Stefanie, Hagelueken Gregor, Geyer Matthias, Carels Carine, van Rooij Iris A L M, Ludwig Kerstin U, Odermatt Benjamin, Mangold Elisabeth

Abstract excerpt

Orofacial clefting (OFC) is a frequent congenital anomaly and can occur either in the context of underlying syndromes or in isolation (nonsyndromic). The two common OFC phenotypes are cleft lip with/without cleft palate (CL/P) and cleft palate only (CPO). In this study, we searched for penetrant CL/P genes, by evaluating de novo copy number variants (CNV) from an exome sequencing dataset of 50 nonsyndromic...

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Identifiers

PMID: 39702590
DOI: 10.1038/s41431-024-01775-9
PMCID: PMC7617551

Genes

ZFHX4
CPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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