title: A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.
authors.affiliation: Division of Genetics, Department of Pediatrics, University of California, San Francisco, 94143-0748, USA. slavotia@peds.ucsf.edu
authors.forename: Anne M
authors.initials: AM
authors.lastname: Slavotinek
authors.forename: Jill A
authors.initials: JA
authors.lastname: Rosenfeld
authors.forename: Ryan
authors.initials: R
authors.lastname: Chao
authors.forename: Dimitry
authors.initials: D
authors.lastname: Niyazov
authors.forename: Marthand
authors.initials: M
authors.lastname: Eswara
authors.forename: Patricia I
authors.initials: PI
authors.lastname: Bader
authors.forename: David W
authors.initials: DW
authors.lastname: Stockton
authors.forename: Pawel
authors.initials: P
authors.lastname: Stankiewicz
authors.forename: Margaret P
authors.initials: MP
authors.lastname: Adam
mesh_terms: D002147:Calmodulin / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D003964:Diaphragm / Q000002:abnormalities*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male
chemical_list: C428830:CALN1 protein, human; D002147:Calmodulin