Hypoglycemia in Kabuki syndrome
Author:
Affiliation:
1. Department of Pediatric Endocrinology; Great Ormond Street Hospital; London UK
2. Developmental Endocrinology Research Group; Molecular Genetics Unit; Institute of Child Health; University College London; London UK
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36256/fullpdf
Reference20 articles.
1. Kabuki syndrome: A review;Adam;Clin Genet,2004
2. Further delineation of Kabuki syndrome in 48 well-defined new individuals;Armstrong;Am J Med Genet Part A,2005
3. How genetically heterogenous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum;Banka;Eur J Hum Genet,2012
4. Kabuki syndrome revisited;Bokinni;J Hum Genet,2012
5. MLL2: A new mammalian member of the trx/MLL family of genes;FitzGerald;Genomics,1999
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1. Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the <i>KMT2D</i> Gene;Molecular Syndromology;2024-08-08
2. Syndromic forms of congenital hyperinsulinism;Frontiers in Endocrinology;2023-03-30
3. Persistent Hypoglycemia and Hyperinsulinism in a Patient With KMT2D-Associated Kabuki Syndrome;JCEM Case Reports;2023-02-17
4. A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome;Endocrine Regulations;2023-01-01
5. CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia;Italian Journal of Pediatrics;2022-08-20
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