Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia

Haematologica

Volumn 95, Issue 1, 2010, Pages 168-169

  Lanciotti, Marina ^a   Indaco, Stefania ^a   Bonanomi, Sonia ^b   Coliva, Tiziana ^b   Mastrodicasa, Elena ^c   Caridi, Gianluca ^a   Calvillo, Michaela ^a   Dufour, Carlo ^a  

^a G GASLINI INSTITUTE   (Italy)

^b SAN GERARDO HOSPITAL   (Italy)

^c SANTA MARIA DELLA MISERICORDIA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GRANULOCYTE COLONY STIMULATING FACTOR;

ANAMNESIS; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; GENE; GENE MUTATION; HAX1 GENE; HUMAN; LETTER; MALE; NERVE CELL DIFFERENTIATION; NERVOUS SYSTEM MALFORMATION; NEUTROPENIA; PRESCHOOL CHILD; SCHOOL CHILD;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; ITALY; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEUTROPENIA; PEDIGREE; SEVERITY OF ILLNESS INDEX;

EID: 73949097643     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.015370     Document Type: Letter

References (8)

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