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Literature DB >> 27862928

Maternally derived 15q11.2-q13.1 duplication in a child with Lennox-Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature.

Alice Bonuccelli¹, Angelo Valetto², Alessandro Orsini^1,3, Angela Michelucci², Anna Rita Ferrari⁴, Maurizio Elia⁵, Veronica Bertini².

Abstract

Entities: Disease Species

Mesh：

Year: 2016 PMID： 27862928 DOI： 10.1002/ajmg.a.38039

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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1 in total

1. Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes.

Authors: Tingting Li; Haiquan Sang; Guoming Chu; Yuanyuan Zhang; Manlong Qi; Xiaoliang Liu; Wanting Cui; Yanyan Zhao
Journal: Mol Cytogenet Date: 2020-07-14 Impact factor: 2.009

1 in total