A novel PTPN11 gene mutation in a patient with LEOPARD Syndrome.
Du-Thanh
Aurélie
A
Cave
Hélène
H
Bessis
Didier
D
Puso
Carine
C
Guilhou
Jean-Jacques
JJ
Dereure
Olivier
O
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
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