Article

Importance about use of high-throughput sequencing in pediatric: case report a patient with Fanconi-Bickel syndrome

2023-09-27

Abstract excerpt

<h4>Background: </h4> Fanconi-Bickel syndrome is characterized by hepatorenal disease caused by anomalous storage of glycogen. It occurs due to variants in SLC2A2 gene. We present a male patient of 2 years 7 months old, with failure to thrive, hepatomegaly, metabolic acidosis, hypophosphatemia, hypokalemia, hyperlactatemia. <h4>Results: </h4> Whole exome sequencing identified the pathogenic variant NM_000340.2(SL...

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Literature Corpus work: 6bfab10f-c0d0-5c1a-8bdb-0fd2214ff67b
DOI: 10.21203/rs.3.rs-3293463/v1

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