Literature DB >> 27438212

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Manuela Panteliades1, Claudia Marcia Resende Silva1, Bernardo Gontijo1.   

Abstract

CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.

Entities:  

Mesh：

Year:  2016        PMID： 27438212      PMCID： PMC4938289          DOI： 10.1590/abd1806-4841.20165897

Source DB:  PubMed          Journal:  An Bras Dermatol        ISSN： 0365-0596            Impact factor:   1.896


  7 in total

1.  Phenotypic progression of skeletal anomalies in CLOVES syndrome.

Authors:  Steven Klein; Albert Stroberg; Shahnaz Ghahremani; Julian A Martinez-Agosto
Journal:  Am J Med Genet A       Date:  2012-05-24       Impact factor: 2.802

2.  Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.

Authors:  Kyle C Kurek; Valerie L Luks; Ugur M Ayturk; Ahmad I Alomari; Steven J Fishman; Samantha A Spencer; John B Mulliken; Margot E Bowen; Guilherme L Yamamoto; Harry P W Kozakewich; Matthew L Warman
Journal:  Am J Hum Genet       Date:  2012-05-31       Impact factor: 11.025

3.  Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder.

Authors:  Zoran S Gucev; Velibor Tasic; Aleksandra Jancevska; Marina Krstevska Konstantinova; Nada Pop-Jordanova; Zoran Trajkovski; Leslie G Biesecker
Journal:  Am J Med Genet A       Date:  2008-10-15       Impact factor: 2.802

4.  Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients.

Authors:  Julie C Sapp; Joyce T Turner; Jiddeke M van de Kamp; Fleur S van Dijk; R Brian Lowry; Leslie G Biesecker
Journal:  Am J Med Genet A       Date:  2007-12-15       Impact factor: 2.802

5.  Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome.

Authors:  Ahmad I Alomari
Journal:  Clin Dysmorphol       Date:  2009-01       Impact factor: 0.816

Review 6.  CLOVES syndrome.

Authors:  Jacob Bloom; Joseph Upton
Journal:  J Hand Surg Am       Date:  2013-10-23       Impact factor: 2.230

7.  Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.

Authors:  Jonathan J Rios; Nandina Paria; Dennis K Burns; Bonnie A Israel; Reuel Cornelia; Carol A Wise; Marybeth Ezaki
Journal:  Hum Mol Genet       Date:  2012-10-24       Impact factor: 6.150
  7 in total
  2 in total

1.  Can Tissue Expansion Reconstruction in the Trunk of Children Increase the Risk of Scoliosis?

Authors:  Paul Yen; Marija Bucevska; Christopher Reilly; Cynthia Verchere
Journal:  Plast Surg (Oakv)       Date:  2020-06-26       Impact factor: 0.947

Review 2.  A Review on Cutaneous and Musculoskeletal Manifestations of CLOVES Syndrome.

Authors:  Emel Öztürk Durmaz; Deniz Demircioğlu; Pınar Yalınay Dikmen; Yasemin Alanay; Ahmet Alanay; Cüyan Demirkesen; Fatma Tokat; Ercan Karaarslan
Journal:  Clin Cosmet Investig Dermatol       Date:  2022-04-13
  2 in total

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