Clinical Features and Genetic Sequencing of Children with Fanconi–Bickel Syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s12098-022-04372-0.pdf
Reference10 articles.
1. Santer R, Groth S, Kinner M, et al. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum Genet. 2002;110:21–9.
2. Grünert SC, Schumann A, Baronio F, et al. Evidence for a genotype-phenotype correlation in patients with pathogenic GLUT2 (SLC2A2) variants. Genes (Basel). 2021;12:1785.
3. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.
4. Khandelwal P, Sinha A, Jain V, Houghton J, Hari P, Bagga A. Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects. CEN Case Rep. 2018;7:1–4.
5. Manz F, Bickel H, Brodehl J, et al. Fanconi-Bickel syndrome. Pediatr Nephrol. 1987;1:509–18.
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