Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy

• Główni autorzy: Giovanni Murialdo (Autor), Attilia Piazzi (Autor), Giuseppe Badolati (Autor), Enrico Calcagno (Autor), Agostino Berio (Autor)
• Format: Książka
• Wydane: PAGEPress Publications, 2016-06-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

In the present paper we report on a case of oculo-auriculo-vertebral spectrum presenting fluorescence in situ hybridization and comparative genomic hybridization tests negative, hypotonia of some branchiomeric muscles (with velo-pharyngeal insufficiency, dysphagia and nasal voice) and non-branchiome...