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Article

Genetic, Clinical, and Biochemical Characterization of a Large Cohort of Palestinian Patients With Fanconi-Bickel Syndrome.

Clinical genetics - 1 Mar 2025

Hodrob Tamer, Abusalameh Alaaeddin, Ismail Ibrahim, Dweikat Imad, Rmeilah Sarah Abu, Sultan Mutaz, Libdeh Bassam Abu, Libdeh Abd-Al-Salam Abu, Shweiki Shaher, Damseh Nadirah

Abstract excerpt

This study aims to investigate the clinical, biochemical, and genetic characteristics of Fanconi-Bickel syndrome (FBS) in a cohort of 20 individuals from Palestine and to identify novel pathogenic variants. A retrospective analysis was conducted on medical records from Al-Makassed Hospital's pediatric department spanning 2015 to 2023. Individuals diagnosed with FBS via molecular genetic testing were included in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39548873
DOI: 10.1111/cge.14648

Genes

SLC2A2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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