✦ LIBER ✦

A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait

✍ Scribed by A. Guala; V. Germinetti; F. Sebastiani; M. C. Silengo

Book ID: 115090355
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 235 KB
Volume: 41
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1992.tb03400.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Cochleosaccular degeneration of the inne

Cochleosaccular degeneration of the inner ear and progressive cataracts inherited as an autosomal dominant trait

✍ Joseph B. Nadol Jr.; Barbara Burgess 📂 Article 📅 1982 🏛 John Wiley and Sons 🌐 English ⚖ 831 KB

Alternating hemiplegia of childhood: a s

Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait

✍ Emmanuel Kanavakis; Athina Xaidara; Dimitra Papathanasiou-Klontza; Stavroula Vel 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 84 KB

Familial blepharospasm is inherited as a

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene

✍ Giovanni Defazio; Francesco Brancati; Enza Maria Valente; Viviana Caputo; Antoni 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 66 KB

## Abstract Blepharospasm (BSP) is a common form of primary torsion dystonia (PTD). Although most cases are sporadic, an increased familial incidence of BSP has been reported. Precisely how blepharospasm is inherited remains unclear. We report on two Italian families with adult‐onset focal BSP inhe

Buschke-ollendorff syndrome: report of a

Buschke-ollendorff syndrome: report of a case and interpretation of the clinical phenotype as a type 2 segmental manifestation of an autosomal dominant skin disease

✍ Torsten Ehrig; Clay J. Cockerell 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 409 KB