Literature DB >> 19371294

Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications.

Muneichiro Sumi1, Yasuharu Ohno, Rie Sasaki, Tatsuro Kondoh, Masato Tagawa, Hideaki Masuzaki, Hiroyuki Moriuchi.   

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Year:  2009        PMID: 19371294     DOI: 10.1111/j.1442-200X.2008.02774.x

Source DB:  PubMed          Journal:  Pediatr Int        ISSN: 1328-8067            Impact factor:   1.524


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  1 in total

1.  Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.

Authors:  Jin-Lan Chen; Xin Zhu; Tian-Li Zhao; Jian Wang; Yi-Feng Yang; Zhi-Ping Tan
Journal:  Mol Cytogenet       Date:  2014-04-16       Impact factor: 2.009

  1 in total

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