Literature DB >> 10955489

SOX9 mutation in a previously published case of campomelic dysplasia without overt campomelia.

U Friedrich, E Schaefer, P Meinecke, G Scherer.   

Abstract

An SOX9 mutation in a previously published case of campomelic dysplasia is described. This case did not have overt campomelia of the femora or tibiae although campomelic dysplasia has subsequently been confirmed by gene analysis.

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Year:  2000        PMID： 10955489     DOI： 10.1097/00019605-200009030-00017

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  2 in total

1.  Acampomelic form of campomelic dysplasia with SOX9 missense mutation.

Authors:  Hariharan Gopakumar; Andrea Superti-Furga; Sheila Unger; Gerd Scherer; P K Rajiv; Sheela Nampoothiri
Journal:  Indian J Pediatr       Date:  2013-04-07       Impact factor: 1.967

2.  Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.

Authors:  Eduardo P Mattos; Maria Teresa V Sanseverino; José Antônio A Magalhães; Júlio César L Leite; Temis Maria Félix; Luiz Alberto Todeschini; Denise P Cavalcanti; Lavinia Schüler-Faccini
Journal:  Genet Mol Biol       Date:  2014-03-17       Impact factor: 1.771
  2 in total

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