Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes.
Sarkozy
Anna
A
IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy. a.sarkozy@css-mendel.it
Schirinzi
Annalisa
A
Lepri
Francesca
F
Bottillo
Irene
I
De Luca
Alessandro
A
Pizzuti
Antonio
A
Tartaglia
Marco
M
Digilio
Maria Cristina
MC
Dallapiccola
Bruno
B
D003937:Diagnosis, Differential; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D044542:LEOPARD Syndrome / Q000175:diagnosis* / Q000235:genetics*; D025202:Molecular Diagnostic Techniques; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics*