A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing

Italian Journal of Pediatrics

Volumn 41, Issue 1, 2015, Pages

  Solomon, Ponnumony John ^a   Margaret, Priya ^a   Rajendran, Ramya ^a   Ramalingam, Revathy ^a   Menezes, Godfred A ^a,b   Shirley, Alph S ^a   Lee, Seung Jun ^c   Seong, Moon Woo ^c   Park, Sung Sup ^c   Seol, Dodam ^c   Seo, Soo Hyun ^c  

^a SREE BALAJI MEDICAL COLLEGE AND HOSPITAL   (India)

^b UNIVERSITY OF HAIL   (Saudi Arabia)

^c Seoul National University Hospital   (South Korea)

Author keywords

Anemia; FANC genes; FANCA gene; Fanconi Anemia; Mutations

Indexed keywords

FANCONI ANEMIA GROUP A PROTEIN; FANCA PROTEIN, HUMAN;

BIRTH WEIGHT; BLOOD TRANSFUSION; CASE REPORT; CHILD; CHROMOSOME ABERRATION; DNA FLANKING REGION; ECHOCARDIOGRAPHY; ERYTHROCYTE CONCENTRATE; EXON; FANCA GENE; FANCONI ANEMIA; FEEDING DIFFICULTY; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC CODE; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; MALE; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; PATENT DUCTUS ARTERIOSUS; PHYSICAL EXAMINATION; PYELONEPHRITIS; RECURRENT DISEASE; RESPIRATORY TRACT INFECTION; REVIEW; SCHOOL CHILD; SMALL FOR DATE INFANT; URINARY TRACT INFECTION; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; GENETICS; SINGLE NUCLEOTIDE POLYMORPHISM;

CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP A PROTEIN; GENETIC TESTING; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84930673524     PISSN: 17208424     EISSN: 18247288     Source Type: Journal    
DOI: 10.1186/s13052-015-0142-6     Document Type: Review

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