Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
Sarkozy
A
A
CSS Hospital, IRCCS, San Giovanni Rotondo, Italy.
Conti
E
E
Digilio
M Cristina
MC
Marino
B
B
Morini
E
E
Pacileo
G
G
Wilson
M
M
Calabrò
R
R
Pizzuti
A
A
Dallapiccola
B
B
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins; D044542:LEOPARD Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases