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Paper Details

Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.
J Neurosurg Pediatr
0
2023
CS, Ca2+, HEK293, HEK293 cells, Leu166Met, MAPK, NM_021625.4:c.496C, TRPV4, TRPV4 p.Leu166Met, TRPV4 protein, Xenopus tropicalis, amino acid, ankyrin repeat domain, c., channelopathies, children, familial nonsyndromic craniosynostosis, germline DNA, nonsyndromic CS, patients, transient receptor potential vanilloid 4, transient receptor potential vanilloid 4 (TRPV4) gene, wild-type TRPV4
Author NameAffiliation
Robert EveleighMcGill University
Nada JabadoMcGill University
Nada JabadoMcGill University
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Release 1.2