title: A novel PTPN11 gene mutation in a patient with LEOPARD Syndrome.
authors: Aurélie
authors: A
authors: Du-Thanh
authors: Hélène
authors: H
authors: Cave
authors: Didier
authors: D
authors: Bessis
authors: Carine
authors: C
authors: Puso
authors: Jean-Jacques
authors: JJ
authors: Guilhou
authors: Olivier
authors: O
authors: Dereure
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D044542:LEOPARD Syndrome / Q000235:genetics*; D020125:Mutation, Missense; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054593:SH2 Domain-Containing Protein Tyrosine Phosphatases; D018909:src Homology Domains / Q000235:genetics
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases; D054593:SH2 Domain-Containing Protein Tyrosine Phosphatases