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Lamar-Segura E | OMICS International
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
Open Access

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Lamar-Segura E

Ecuador
Publications

Supernumerary Marker of Chromosome 15 Associated with Paternal Uniparental Disomy in a Case with Angelman Syndrome

Angelman syndrome is a rare neurogenetic disorder that usually is clinically associated with global developmental delay including absence of speech, seizures, ataxic gait and frequent smiling. Its genetic bases is complex even though normally it may be attributed to epigenetic alterations of chromosomal region 15q11.2~13. We present a girl of ... Read More»

Arianne LLamos Paneque, Recalde-Baez MA, Castro G, Armendáriz M, Rivas-Iglesias C, Lamar-Segura E, Román-Naranjo M, Tambaco- Jijón, Hernández-Iñiguez P, Hernández-Iñiguez P, Mrasek K, Liehr T and Odales-Ibarra R

: J Mol Genet Med 2019, 13: 439

Abstract Peer-reviewed Full Article Peer-reviewed Article PDF Mobile Full Article

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