1. Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene 
Maria Cristina Digilio, Emanuela Conti, Anna Sarkozy, Rita Mingarelli, Tania Dottorini, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola 
The American Journal of Human Genetics 
Volume 71, Issue 2, Pages (August 2002)
DOI: /341528
Copyright © 2002 The American Society of Human Genetics Terms and Conditions

2. Figure 1 Facial appearance of patient 2
The American Journal of Human Genetics  , DOI: ( /341528)
Copyright © 2002 The American Society of Human Genetics Terms and Conditions

3. Figure 2
SSCP and sequence analysis of the two identified mutations. Anomalous patterns of DNA SSCP in patients with ML/LEOPARD syndrome are indicated by asterisks (*). a, Mutation 836A→G in exon 7. b, Mutation 1403C→T in exon 12.
The American Journal of Human Genetics  , DOI: ( /341528)
Copyright © 2002 The American Society of Human Genetics Terms and Conditions

4. Figure 3
PTPN11 protein structure and location of the two missense mutations reported. N-SH2 and C-SH2 are the N-terminal and C-terminal tandemly arranged SH2 domains, followed by a protein PTP domain at the C-terminus, where the two mutational hotspots are localized. Functional domains' amino acid boundaries are indicated.
The American Journal of Human Genetics  , DOI: ( /341528)
Copyright © 2002 The American Society of Human Genetics Terms and Conditions

5. Figure 4
Structure of PTPN11 protein representation with mutated amino acids. Cα-traces of the N-SH2 (green), C-SH2 (clear green), and PTP (red) domains are shown. Mutated residues are indicated by thick lines. Most mutations (thick, white lines) in patients with NS who have been described elsewhere (Tartaglia et al. 2001) are located in the N-SH2 domain. The ML/LEOPARD mutations (thick, cyan lines) are located in the PTP domain. This model was made by use of the program Deep View Swiss-PdbViewer.
The American Journal of Human Genetics  , DOI: ( /341528)
Copyright © 2002 The American Society of Human Genetics Terms and Conditions