Severe congenital neutropenia due to G6PC3 deficiency: Early and delayed phenotype in two patients with two novel mutations

Italian Journal of Pediatrics

Volumn 40, Issue 1, 2014, Pages

  Notarangelo, Lucia Dora ^a   Savoldi, Gianfranco ^a   Cavagnini, Sara ^a   Bennato, Veronica ^a   Vasile, Sabrina ^b   Pilotta, Alba ^a   Plebani, Alessandro ^c   Porta, Fulvio ^a  

^a SPEDALI CIVILI   (Italy)

^b VALDUCE HOSPITAL   (Italy)

^c UNIVERSITY OF BRESCIA   (Italy)

Author keywords

G CSF; G6PC3; Neutropenia; SCN4; Severe congenital neutropenia type 4

Indexed keywords

GENOMIC DNA; GRANULOCYTE COLONY STIMULATING FACTOR; IMMUNOGLOBULIN G; DNA; G6PC3 PROTEIN, HUMAN; GLUCOSE 6 PHOSPHATASE;

ABDOMINAL RADIOGRAPHY; ADULT; ANEMIA; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CD3+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CHILD; CLINICAL ARTICLE; DELAYED PUBERTY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ECHOGRAPHY; FACE DYSMORPHIA; FEMALE; G6PC3 GENE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERGONADOTROPIC HYPOGONADISM; IMMUNOGLOBULIN BLOOD LEVEL; ITALIAN (CITIZEN); LEUKOCYTE COUNT; LYMPHOCYTE COUNT; MALE; MONOCYTE COUNT; MONOCYTOSIS; NEUTROPHIL COUNT; PHENOTYPE; PHYSICAL EXAMINATION; PLATELET COUNT; PRESCHOOL CHILD; SEVERE CONGENITAL NEUTROPENIA; STAPHYLOCOCCUS INFECTION; THROMBOCYTOPENIA; YOUNG ADULT; DNA MUTATIONAL ANALYSIS; GENETICS; METABOLISM; MUTATION; NEUTROPENIA; NEWBORN; PEDIGREE; TIME FACTOR;

CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GLUCOSE-6-PHOSPHATASE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEUTROPENIA; PEDIGREE; PHENOTYPE; TIME FACTORS; YOUNG ADULT;

EID: 84920860920     PISSN: 17208424     EISSN: 18247288     Source Type: Journal    
DOI: 10.1186/s13052-014-0080-8     Document Type: Article

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