Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients-Reference-Cited by-同舟云学术

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

Published:2016-04-06 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Girisha Katta Mohan,Bidchol Abdul Mueed,Graul-Neumann Luitgard,Gupta Ashish,Hehr Ute,Lessel Davor,Nader Sean,Shah Hitesh,Wickert Julia,Kutsche Kerstin

Funder

Indian Council of Medical Research (IN)

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0290-6

Reference36 articles.

1. Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004;36(4):405–10.

2. Farrington-Rock C, Kirilova V, Dillard-Telm L, Borowsky AD, Chalk S, Rock MJ, Cohn DH, Krakow D. Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. Hum Mol Genet. 2008;17(5):631–41.

3. Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K. Atelosteogenesis syndromes: a review, with comments on their pathogenesis. Ped Radiol. 1997;27(5):388–96.

4. Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, et al. Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006;27(7):705–10.

5. Kozlowski K, Sillence D, Cortis-Jones R, Osborn R. Boomerang dysplasia. Brit J Radiol. 1985;58(688):369–71.

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