Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
Lanciotti
Marina
M
Indaco
Stefania
S
Bonanomi
Sonia
S
Coliva
Tiziana
T
Mastrodicasa
Elena
E
Caridi
Gianluca
G
Calvillo
Michaela
M
Dufour
Carlo
C
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
D048868:Adaptor Proteins, Signal Transducing; C104759:HAX1 protein, human