Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation

Journal of Pediatric Hematology/Oncology

Volumn 38, Issue 7, 2016, Pages e243-e247

  Glasser, Chana L ^a   Picoraro, Joseph A ^b   Jain, Preti ^c   Kinberg, Sivan ^b   Rustia, Evelyn ^c   Gross Margolis, Kara ^b   Anyane Yeboa, Kwame ^c   Iglesias, Alejandro D ^c   Green, Nancy S ^c  

^a WINTHROP UNIVERSITY   (United States)

^b Division of Pediatric Gastroenterology Hepatology and Nutrition   (United States)

^c NewYork Presbyterian Hospital   (United States)

Author keywords

founder; G6PC3; inflammatory bowel disease; severe congenital neutropenia

Indexed keywords

ANTIBIOTIC AGENT; C REACTIVE PROTEIN; GLUCOSE 6 PHOSPHATASE; GLUCOSE 6 PHOSPHATASE CATALYTIC SUBUNIT 3; INFLIXIMAB; RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR; STEROID; UNCLASSIFIED DRUG; G6PC3 PROTEIN, HUMAN; GRANULOCYTE COLONY STIMULATING FACTOR;

ADOLESCENT; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CELLULITIS; CHILD; CHILD GROWTH; CLINICAL FEATURE; CLOSTRIDIUM DIFFICILE INFECTION; COLONOSCOPY; DISEASE SEVERITY; DOMINICAN REPUBLIC; FACE DYSMORPHIA; FAILURE TO THRIVE; FOUNDER MUTATION; GASTROINTESTINAL DISEASE; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GLUCOSE 6 PHOSPHATASE CATALYTIC SUBUNIT 3 GENE; HELICOBACTER INFECTION; HISPANIC; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFLAMMATORY BOWEL DISEASE; LABORATORY TEST; MALE; NEUTROPHIL COUNT; PHENOTYPIC VARIATION; PHYSICAL EXAMINATION; POLAND SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SEQUENCE ALIGNMENT; SEVERE CONGENITAL NEUTROPENIA; SEVERE CONGENITAL NEUTROPENIA TYPE IV; THROMBOCYTOPENIA; WHOLE EXOME SEQUENCING; GENETICS; MUTATION; NEUTROPENIA; PHENOTYPE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FAILURE TO THRIVE; GASTROINTESTINAL DISEASES; GLUCOSE-6-PHOSPHATASE; GRANULOCYTE COLONY-STIMULATING FACTOR; HUMANS; MALE; MUTATION; NEUTROPENIA; PHENOTYPE;

EID: 84984666462     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0000000000000660     Document Type: Article

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