Publications
Export 2 results:
Author Title [ Year] Filters: Keyword is Mutation and Author is Li, Bing [Clear All Filters]
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat 39, 152-166 (2018).
Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. Am J Med Genet A 164A, 2407-11 (2014).