Article

<i>Snrpb</i> , the CCMS gene, is required in neural crest cells for proper splicing of genes essential for craniofacial morphogenesis

2021-08-08

Abstract excerpt

<h4>Summary</h4> Heterozygous mutations in SNRPB , an essential core component of the five small ribonucleoprotein particles of the spliceosome, are responsible for Cerebrocostomandibular Syndrome (CCMS). We show that Snrpb heterozygous embryos arrest shortly after implantation. Additionally, heterozygous deletion of Snrpb in the developing brain and neural crest cells models craniofacial malformations found i...

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Literature Corpus work: dceb957f-55f3-5596-89d8-843efed6e619
DOI: 10.1101/2021.08.07.455514

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