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

• Asıl Yazarlar: Giovanni Murialdo (Yazar), Attilia Piazzi (Yazar), Giuseppe Badolati (Yazar), Enrico Calcagno (Yazar), Agostino Berio (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: PAGEPress Publications, 2016-06-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...