✦ LIBER ✦

Exudative vasculopathy in a child with Leber congenital amaurosis

✍ Scribed by Moloney, Thomas P.; Patel, Chirag; Gole, Glen A.

Book ID: 122153511
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 321 KB
Volume: 18
Category: Article
ISSN: 1528-3933
DOI: 10.1016/j.jaapos.2014.01.006

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Leber Congenital Amaurosis and Retinitis

Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

✍ Anneke I. den Hollander; John R. Heckenlively; L. Ingeborgh van den Born; Yvette 📂 Article 📅 2001 🏛 American Society of Human Genetics 🌐 English ⚖ 317 KB

Leber congenital amaurosis in siblings w

Leber congenital amaurosis in siblings with diffuse dysmyelination

✍ Curless, Richard G.; Flynn, John T.; Olsen, Karl R.; Judith Post, M. 📂 Article 📅 1991 🏛 Elsevier Science 🌐 English ⚖ 329 KB

Novel frameshift mutations in CRX associ

Novel frameshift mutations in CRX associated with Leber congenital amaurosis

✍ Carlo Rivolta; Naomi E. Peck; Anne B. Fulton; Gerald A. Fishman; Eliot L. Berson 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB

Mutations in CRX, a photoreceptor-specific transcription factor, can cause Leber congenital amaurosis (LCA), cone-rod dystrophy (CORD), and retinitis pigmentosa (RP), all of which feature severe visual impairment. Upon screening 55 patients with Leber congenital amaurosis, 75 patients with cone-rod

Attainment of Educational Levels in Pati

Attainment of Educational Levels in Patients with Leber’s Congenital Amaurosis

✍ M.A. Apushkin; G.A. Fishman 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 61 KB

Clinical phenotypes in carriers of Leber

Clinical phenotypes in carriers of Leber congenital amaurosis mutations

✍ Jennifer A. Galvin; Gerald A. Fishman; Edwin M. Stone; Robert K. Koenekoop 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 297 KB

CHARACTERISTICS OF INFANTILE AUTISM IN F

CHARACTERISTICS OF INFANTILE AUTISM IN FIVE CHILDREN WITH LEBER'S CONGENITAL AMAUROSIS

✍ Sally J. Rogers; Sue Newhart-Larson 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 872 KB