Angelman Syndrome: A Case Report.

Farah Ashrafzadeh, Arianeh Sadrnabavi, Javad Akhondian, Mehran Beiraghi Toosi, Mohammadhassan Mohammadi, Kazem Hassanpour

Abstract readCase Reports

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In one paragraph

Article in Iranian journal of child neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

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1 · What the graph read from it

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

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5 · Who and what money

Authors and funding

6 authors.

Farah AshrafzadehDepartment of Pediatric Neurology, Ghaem Medical Center, Mashhad University of Medical Sciences, Mashhad, Iran.

Arianeh SadrnabaviDept. of Human Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

Javad AkhondianDepartment of Pediatric Neurology, Ghaem Medical Center, Mashhad University of Medical Sciences, Mashhad, Iran.

Mehran Beiraghi ToosiDepartment of Pediatric Neurology, Ghaem Medical Center, Mashhad University of Medical Sciences, Mashhad, Iran.

Mohammadhassan MohammadiDepartment of Pediatric, School of Medicine, Sabzevar University of Medical Sciences, Sabzevar, Iran.

Kazem HassanpourDepartment of Pediatric, School of Medicine, Sabzevar University of Medical Sciences, Sabzevar, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective Angelman syndrome (AS) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. It occurs due to an expression deletion in 15q11-q13 chromosome. In this article, we present an eight yr boy referred to Pediatrics Neurologic Clinic Mashhad, Iran for speech delay. He had abnormal behavior ataxia unusual laughing facial expression intellectual disability and mandibular prognathism. Metabolic screening tests and brain MRI were normal. Genetic analysis was pathognomonic for AS.

Indexed as

Angelman syndromeChildDevelopmental delayIran

Identifiers

PMID27247589

PMCPMC4885160

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