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Keywords: Cerebrocostomandibular syndrome
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Journal Articles
Dis Model Mech (2022) 15 (6): dmm049544.
Published: 23 June 2022
... ribonucleoprotein particles of the spliceosome, are responsible for cerebrocostomandibular syndrome (CCMS). We show that Snrpb heterozygous mouse embryos arrest shortly after implantation. Additionally, heterozygous deletion of Snrpb in the developing brain and neural crest cells models craniofacial malformations...
Includes: Supplementary data