PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
Keren
B
B
Laboratoire de Biochimie Génétique, Hôpital Robert Debré, 48, Boulevard Sérurier, 75019 Paris, France. cave@infobiogen.fr.
Hadchouel
A
A
Saba
S
S
Sznajer
Y
Y
Bonneau
D
D
Leheup
B
B
Boute
O
O
Gaillard
D
D
Lacombe
D
D
Layet
V
V
Marlin
S
S
Mortier
G
G
Toutain
A
A
Beylot
C
C
Baumann
C
C
Verloes
A
A
Cavé
H
H
D000293:Adolescent; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005602:France; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D044542:LEOPARD Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; 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