✦ LIBER ✦

A syndrome with retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract

✍ Scribed by Rosenberg, Thomas ;Parving, Agnete

Book ID: 114785317
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 424 KB
Volume: 74
Category: Article
ISSN: 1395-3907
DOI: 10.1111/j.1600-0420.1996.tb00387.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel syndrome of cataracts, retinitis p

Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: A new Usher syndrome subtype with X-linked inheritance?

✍ Mahdi Malekpour; Arash Shahidi; Mohammad Taghi Khorsandi Ashtiani; Masoud Motasa 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 303 KB 👁 2 views

## Abstract Tissues of the auditory, ocular and reproductive systems have some similarities in their protein families and structures. Consequently, syndromes comprising these systems are described. Hearing loss alone is a component of more than 400 known syndromes and is a common nonsyndromic conge

Mutations in PTPRQ Are a Cause of Autoso

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

✍ Margit Schraders; Jaap Oostrik; Patrick L.M. Huygen; Tim M. Strom; Erwin van Wij 📂 Article 📅 2010 🏛 American Society of Human Genetics 🌐 English ⚖ 657 KB

Impairment of Gaze Fixation and Holding

Impairment of Gaze Fixation and Holding in Patients with Neurocirculatory Asthenia Syndrome and Associated Vestibular Dysfunction

✍ E. L. Teslenko; A. Yu. Shvetsov; B. Kh. Baziyan 📂 Article 📅 2010 🏛 Springer US 🌐 English ⚖ 380 KB

Clinical and immunohistochemical evidenc

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

✍ A. Iannaccone; D.K. Breuer; X.F. Wang; S.F. Kuo; E.M. Normando; E. Filippova; A. 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 40 KB

A novel gene for Usher syndrome type 2:

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

✍ Inga Ebermann; Hendrik P. N. Scholl; Peter Charbel Issa; Elvir Becirovic; Jürgen 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 518 KB