A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency

Pediatric Blood and Cancer

Volumn 60, Issue 7, 2013, Pages

  Estévez, Orlando A ^a   Ortega, Consuelo ^b   Tejero, Ángeles ^a   Fernández, Silvia ^b   Aguado, Rocío ^a   Aróstegui, Juan I ^c   González Roca, Eva ^c   Peña, José ^a,b   Santamaría, Manuel ^a,b  

^a HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

^b UNIVERSITY OF CÓRDOBA   (Spain)

^c INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

Author keywords

Atrial septal defect type II; G6PC3, G CSF; SCN4; Severe congenital neutropenia

Indexed keywords

GRANULOCYTE COLONY STIMULATING FACTOR; PROTEIN; PROTEIN G6PC3; UNCLASSIFIED DRUG;

ARTICLE; BLEPHARITIS; BONE PAIN; CASE REPORT; CAUCASIAN; CHILD; CRYPTORCHISM; EAR INFECTION; ECHOGRAPHY; EYELID EDEMA; FACE DYSMORPHIA; FEVER; GENE MUTATION; GRANULOCYTE FUNCTION; HUMAN; INGUINAL HERNIA; MALE; MIXED INFECTION; MOUTH ULCER; MUTATIONAL ANALYSIS; NEUTROPHIL COUNT; NEWBORN SEPSIS; NOSE INFECTION; PERIODONTAL DISEASE; PHARYNGITIS; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY TRACT INFECTION; SCHOOL CHILD; SEVERE CONGENITAL NEUTROPENIA; SPLENOMEGALY; THROMBOCYTE COUNT; THROMBOCYTOPENIA; THRUSH;

CHILD; GLUCOSE-6-PHOSPHATASE; GRANULOCYTE COLONY-STIMULATING FACTOR; HUMANS; MALE; NEUTROPENIA; PHENOTYPE;

EID: 84878258344     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24499     Document Type: Article

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