Literature DB >> 27037214

Multiple enchondromas and skin angiomas: Maffucci syndrome.

Vincenzo Maione1, Giuseppe Stinco2, Enzo Errichetti2.   

Abstract

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Mesh：

Year:  2016        PMID： 27037214     DOI： 10.1016/S0140-6736(16)00088-X

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  3 in total

1.  IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome.

Authors:  Peng Cheng; Kun Chen; Shu Zhang; Ke-Tao Mu; Shuang Liang; Ying Zhang
Journal:  Front Endocrinol (Lausanne)       Date:  2021-11-01       Impact factor: 5.555

2.  Maffucci syndrome: Case report and review of diagnostic signs of the rare disease.

Authors:  Muhammad Tahir Khan; Sadaf Arooj; Muhammad Umer Mukhtar; Rewati Raman
Journal:  Radiol Case Rep       Date:  2022-08-01

3.  Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.

Authors:  Natasha J Brown; Zimeng Ye; Chloe Stutterd; Sureshni I Jayasinghe; Amy Schneider; Saul Mullen; Simone A Mandelstam; Michael S Hildebrand
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-12-09
  3 in total

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