title: PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
authors.affiliation: Laboratoire de Biochimie Génétique, Hôpital Robert Debré, 48, Boulevard Sérurier, 75019 Paris, France. cave@infobiogen.fr.
authors.forename: B
authors.initials: B
authors.lastname: Keren
authors.forename: A
authors.initials: A
authors.lastname: Hadchouel
authors.forename: S
authors.initials: S
authors.lastname: Saba
authors.forename: Y
authors.initials: Y
authors.lastname: Sznajer
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
authors.forename: B
authors.initials: B
authors.lastname: Leheup
authors.forename: O
authors.initials: O
authors.lastname: Boute
authors.forename: D
authors.initials: D
authors.lastname: Gaillard
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: V
authors.initials: V
authors.lastname: Layet
authors.forename: S
authors.initials: S
authors.lastname: Marlin
authors.forename: G
authors.initials: G
authors.lastname: Mortier
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.forename: C
authors.initials: C
authors.lastname: Beylot
authors.forename: C
authors.initials: C
authors.lastname: Baumann
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: H
authors.initials: H
authors.lastname: Cavé
mesh_terms: 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*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases