Literature DB >> 24820750

Leopard syndrome caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene in a sporadic case of Chinese Han.

Yan Wang1, Chen Chen2, Dao Wen Wang3.   

Abstract

Entities:  

Keywords:  Leopard syndrome; Missense; Mutation; Sporadic

Mesh：

Substances：

Year:  2014        PMID： 24820750     DOI： 10.1016/j.ijcard.2014.04.161

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


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  3 in total

1.  Recombinant human growth hormone in the treatment of C.836A/G-caused short stature in a girl: a case report and literature review.

Authors:  Xiaoxia Qian; Huangping Zhang; Caixia Xiang
Journal:  Transl Pediatr       Date:  2022-05

2.  Do you know this syndrome? Leopard syndrome.

Authors:  Flávio Heleno da Silva Queiroz Cançado; Luis Candido Pinto da Silva; Paulo Franco Taitson; Ana Carolina Dias Viana de Andrade; Matheus Melo Pithon; Dauro Douglas Oliveira
Journal:  An Bras Dermatol       Date:  2017 Jan-Feb       Impact factor: 1.896

Review 3.  Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Authors:  Jia Zhang; Ming Li; Zhirong Yao
Journal:  Mol Med Rep       Date:  2016-09-22       Impact factor: 2.952
  3 in total

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