Literature DB >> 23564514

Acampomelic form of campomelic dysplasia with SOX9 missense mutation.

Hariharan Gopakumar1, Andrea Superti-Furga, Sheila Unger, Gerd Scherer, P K Rajiv, Sheela Nampoothiri.   

Abstract

Campomelic dysplasia is a skeletal dysplasia characterized by flat face, Pierre Robin sequence, shortening and bowing of long bones and club feet. The authors describe a case of "acampomelic" campomelic dysplasia that differs from classical campomelic dysplasia by the absence of bone bowing. This condition is among the most common skeletal dysplasias but is often misdiagnosed in the absence of overt campomelia.

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Year:  2013        PMID： 23564514     DOI： 10.1007/s12098-013-1007-x

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  10 in total

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

Authors:  U Friedrich; E Schaefer; P Meinecke; G Scherer
Journal:  Clin Dysmorphol       Date:  2000-07       Impact factor: 0.816

2.  Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.

Authors:  M Leipoldt; M Erdel; G A Bien-Willner; M Smyk; M Theurl; S A Yatsenko; J R Lupski; A H Lane; A L Shanske; P Stankiewicz; G Scherer
Journal:  Clin Genet       Date:  2007-01       Impact factor: 4.438

Review 3.  Campomelic dysplasia: case report and review.

Authors:  M Gimovsky; E Rosa; T Tolbert; G Guzman; M Nazir; K Koscica
Journal:  J Perinatol       Date:  2008-01       Impact factor: 2.521

4.  Acampomelic campomelic syndrome.

Authors:  U Moog; N J Jansen; G Scherer; C T Schrander-Stumpel
Journal:  Am J Med Genet       Date:  2001-12-01

5.  Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs.

Authors:  M Urioste; A Arroyo; M L Martínez-Frías
Journal:  Am J Med Genet       Date:  1991-12-15

6.  A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal.

Authors:  F J Cameron; R M Hageman; C Cooke-Yarborough; C Kwok; L L Goodwin; D O Sillence; A H Sinclair
Journal:  Hum Mol Genet       Date:  1996-10       Impact factor: 6.150

7.  Acampomelic campomelic dysplasia with SOX9 mutation.

Authors:  M K Thong; G Scherer; K Kozlowski; E Haan; L Morris
Journal:  Am J Med Genet       Date:  2000-08-28

8.  Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.

Authors:  Alex Staffler; Markus Hammel; Mandy Wahlbuhl; Christoph Bidlingmaier; Andreas W Flemmer; Philipp Pagel; Thomas Nicolai; Michael Wegner; Andreas Holzinger
Journal:  Hum Mutat       Date:  2010-06       Impact factor: 4.878

9.  Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

Authors:  J W Foster; M A Dominguez-Steglich; S Guioli; C Kwok; P A Weller; M Stevanović; J Weissenbach; S Mansour; I D Young; P N Goodfellow
Journal:  Nature       Date:  1994-12-08       Impact factor: 49.962

10.  A clinical and genetic study of campomelic dysplasia.

Authors:  S Mansour; C M Hall; M E Pembrey; I D Young
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318
  10 in total
  3 in total

1.  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.  A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia.

Authors:  Anna E von Bohlen; Johann Böhm; Ramona Pop; Diana S Johnson; John Tolmie; Ralf Stücker; Deborah Morris-Rosendahl; Gerd Scherer
Journal:  Mol Genet Genomic Med       Date:  2017-03-21       Impact factor: 2.183

Review 3.  A review of skeletal dysplasia research in India.

Authors:  A Uttarilli; H Shah; A Shukla; K M Girisha
Journal:  J Postgrad Med       Date:  2018 Apr-Jun       Impact factor: 1.476
  3 in total

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