Literature DB >> 17875892

A novel PTPN11 gene mutation in a patient with LEOPARD Syndrome.

Aurélie Du-Thanh, Hélène Cave, Didier Bessis, Carine Puso, Jean-Jacques Guilhou, Olivier Dereure.   

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Year:  2007        PMID： 17875892     DOI： 10.1001/archderm.143.9.1210

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN： 0003-987X


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  2 in total

1.  A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

Authors:  Jonathan J Edwards; Simone Martinelli; Luca Pannone; Ivan Fai-Man Lo; Lisong Shi; Lisa Edelmann; Marco Tartaglia; Ho-Ming Luk; Bruce D Gelb
Journal:  Am J Med Genet A       Date:  2014-05-28       Impact factor: 2.802

Review 2.  Leopard syndrome.

Authors:  Anna Sarkozy; Maria Cristina Digilio; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2008-05-27       Impact factor: 4.123
  2 in total

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