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Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
Girisha KM, Bidchol AM, Graul-Neumann L, Gupta A, Hehr U, Lessel D, Nader S, Shah H, Wickert J, Kutsche K. Girisha KM, et al. BMC Med Genet. 2016 Apr 6;17:27. doi: 10.1186/s12881-016-0290-6. BMC Med Genet. 2016. PMID: 27048506 Free PMC article.
BACKGROUND: Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by large joint dislocations and craniofacial dysmorphism. ...Our findings underscore the characteristic clinical picture of FLNB-associated Larsen syndrome and add Ig …
BACKGROUND: Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by large joint dislocations and craniofa …
Surgical Treatment of Congenital and Obligatory Dislocation of the Patella in Children.
Sever R, Fishkin M, Hemo Y, Wientroub S, Yaniv M. Sever R, et al. J Pediatr Orthop. 2019 Sep;39(8):436-440. doi: 10.1097/BPO.0000000000000973. J Pediatr Orthop. 2019. PMID: 31393310
Nine patients had an underlying diagnosed genetic background [Down syndrome (n=6), Larsen syndrome (n=2), nail-patella syndrome (n=1)]. ...In our opinion, young age at surgery played an important role in the surgical outcome. LEVEL OF EVIDENCE: Level I …
Nine patients had an underlying diagnosed genetic background [Down syndrome (n=6), Larsen syndrome (n=2), nail-patella …