title: Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
authors.forename: Marina
authors.initials: M
authors.lastname: Lanciotti
authors.forename: Stefania
authors.initials: S
authors.lastname: Indaco
authors.forename: Sonia
authors.initials: S
authors.lastname: Bonanomi
authors.forename: Tiziana
authors.initials: T
authors.lastname: Coliva
authors.forename: Elena
authors.initials: E
authors.lastname: Mastrodicasa
authors.forename: Gianluca
authors.initials: G
authors.lastname: Caridi
authors.forename: Michaela
authors.initials: M
authors.lastname: Calvillo
authors.forename: Carlo
authors.initials: C
authors.lastname: Dufour
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009503:Neutropenia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012720:Severity of Illness Index
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C104759:HAX1 protein, human