title: Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia.
authors.forename: Paolo
authors.initials: P
authors.lastname: Prontera
authors.forename: Francesca
authors.initials: F
authors.lastname: Pantaleoni
authors.forename: Simone
authors.initials: S
authors.lastname: Martinelli
authors.forename: Elena
authors.initials: E
authors.lastname: Mastrodicasa
authors.forename: Gabriela
authors.initials: G
authors.lastname: Stangoni
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Barboni
authors.forename: Marco
authors.initials: M
authors.lastname: Tartaglia
authors.forename: Franco
authors.initials: F
authors.lastname: Aversa
authors.forename: Emilio
authors.initials: E
authors.lastname: Donti
mesh_terms: D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D054429:Leukemia, Myelomonocytic, Juvenile / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D016133:Polymerase Chain Reaction; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*
chemical_list: D004247:DNA; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11