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Keywords: Cerebrocostomandibular syndromeClose
In collection:Developmental Disorders
Sabrina Shameen Alam, Shruti Kumar, Marie-Claude Beauchamp, Eric Bareke, Alexia Boucher, Nadine Nzirorera, Yanchen Dong, Reinnier Padilla, Si Jing Zhang, Jacek Majewski, Loydie A. Jerome-Majewska
Journal: Disease Models & Mechanisms
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