Interstitial 6q microdeletion syndrome and epilepsy: A new patient and review of the literature
Author:
Affiliation:
1. Epilepsy Center, San Paolo Hospital, Department of Medicine Surgery and Dentistry; University of Milan; Milan; Italy
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35993/fullpdf
Reference19 articles.
1. Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: Narrowing the critical region for Prader-Willi-like phenotype;Bonaglia;Eur J Hum Genet,2008
2. A de novo interstitial 6q deletion in a boy with a split hand malformation;Duran-Gonzalez;J Appl Genet,2007
3. 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases;Elia;Epilepsia,2006
4. Deletion of the long arm of chromosome 6: two new patients and literature review;Evers;Clin Genet,1996
5. Deletion of SIM1 gene (6q16.2) in patient with a Prader-Willi phenotype;Faivre;J Med Genet,2002
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1. Rare genetic forms of obesity in childhood and adolescence, a comprehensive review of their molecular mechanisms and diagnostic approach;European Journal of Pediatrics;2023-08-23
2. Interstitial 6q deletion in a patient presenting with drug-resistant epilepsy and Prader-Willi like phenotype: An electroclinical description with literature review;Seizure: European Journal of Epilepsy;2023-07
3. Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review;Intractable & Rare Diseases Research;2022-08-31
4. The Spectrum of the Prader–Willi-like Pheno- and Genotype: A Review of the Literature;Endocrine Reviews;2021-08-30
5. Síndrome de deleção 6q;Scientia Medica;2021-05-27
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