Article

Etiology of Craniofacial and Cardiac Malformations in a Mouse Model of SF3B4-Related Syndromes

2024-01-30

Abstract excerpt

<h4>SUMMARY</h4> Pathogenic variants in SF3B4 are responsible for the acrofacial disorders Nager and Rodriguez Syndrome, also known as SF3B4-related Syndromes, associated with malformations in the head, face, limbs, vertebrae as well as the heart. To uncover the etiology of craniofacial malformations found in SF3B4-related syndromes, mutant mouse lines with homozygous deletion of Sf3b4 in neural crest cells (NCC...

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Literature Corpus work: 34130a0c-5e76-5f83-80e7-e532c76c050b
DOI: 10.1101/2024.01.30.578039

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