Výsledky vyhledávání

Netherton syndrome is a rare, multisystem, autosomal recessive genodermatosis characterized by a triad of manifestations: congenital ichthyosis, immune dysregulation, and scalp anomalies. We report the case of a 1-month-old male infant evaluated for

Externí odkaz: https://doaj.org/article/67bb2d2994f04682946f8405c96cf946

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Akademický článek

On clinical findings of Bickerstaff’s brainstem encephalitis in childhood

Autor: Giulia Messina, Sarah Sciuto, Alessandra Fontana, Filippo Greco, Claudia F. Oliva, Maria Grazia Pappalardo, Annamaria Sapuppo, Pierluigi Smilari, Piero Pavone, Rosario Foti

Publikováno v: Journal of Integrative Neuroscience, Vol 20, Iss 2, Pp 509-513 (2021)

A short review on the clinical presentation of pediatrics cases of Bickerstaff brain encephalitis emphasizing the broad clinical spectrum of the disease. Cases of pediatric Bickerstaff’s brainstem encephalitis collected on three electronic medical

Externí odkaz: https://doaj.org/article/beff9324989142d2ba0c02f81de8b14c

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Akademický článek

Pure Interstitial 7q21.3-q 31.1 Duplication: A Rare Segmental Genomic Aneuploidy: Case Report and Review of Cases with Distal and Similar Segment Involved

Autor: Alessandra Di Nora, Germana Lena, Andrea Giugno, Alessia Di Mari, Pierluigi Smilari, Carmelo Minardi, Piero Pavone

Publikováno v: Global Medical Genetics, Vol 08, Iss 03, Pp 123-128 (2021)

In children with developmental delay (DD) and neurologic impairment, diagnosis can be challenging because of the wide spectrum of causes. Since the last decade, the use of array comparative genomic hybridization (CGH) offered a great contribution to

Externí odkaz: https://doaj.org/article/1d9b59206cec49649bec5e96c284c2de

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