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Paper Details

Novel in-frame <i>FLNB</i> deletion causes Larsen syndrome in a three-generation pedigree.
Cold Spring Harb Mol Case Stud
1
2019
5470delAGG, FLNB, FLNB deletion, LMX1B, Larsen syndrome, TBX2, TBX4, arthrogryposis syndromes, c., c. 5468_5470delAGG, clubfeet, congenital knee dislocations, filamin repeat domain, in-frame, joint laxity, knee problems, p, skeletal dysplasias
Author NameAffiliation
Daniel C KoboldtThe Ohio State University
Daniel C KoboldtInstitute for Genomic Medicine at Nationwide Children's Hospital
Brent AdlerThe Ohio State University
Peter WhiteThe Ohio State University
Peter WhiteNationwide Children's Hospital
Richard K WilsonThe Ohio State University
Richard K WilsonNationwide Children's Hospital
Richard K WilsonThe Ohio State University
Richard K WilsonNationwide Children's Hospital
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Release 1.2