✦ LIBER ✦

Congenital cataracts in two siblings with Wolfram Syndrome

✍ Scribed by Mets, Rebecca B.; Emery, Sarah B.; Lesperance, Marci M.; Mets, Marilyn B.

Book ID: 111689477
Publisher: Informa plc
Year: 2010
Tongue: English
Weight: 578 KB
Volume: 31
Category: Article
ISSN: 1381-6810
DOI: 10.3109/13816810.2010.516056

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Congenital myopathy with myasthenic feat

Congenital myopathy with myasthenic features and congenital cataract in two siblings

✍ Y. Nishida; T. Kobayashi; M. Machi; T. Yamada; T. Kitaguchi; K. Oda; I. Goto 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 538 KB

Atrioventricular Nodal Reentrant Tachyca

Atrioventricular Nodal Reentrant Tachycardia in Two Siblings with Wolfram Syndrome

✍ DANIEL R. FRISCH; KEVIN F. KWAKU; DOMINIC J. ALLOCCO; PETER J. ZIMETBAUM 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 139 KB

Congenital muscular dystrophy in two sib

Congenital muscular dystrophy in two siblings with cataracts and slight cerebral involvement

✍ Umbertina C. Reed; Suely K.N. Marie; Ana M.C.B. Tsanaclis; Mary S. Carvalho; Jay 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 124 KB

DIDMOAD Syndrome (Wolfram Syndrome) in F

DIDMOAD Syndrome (Wolfram Syndrome) in Four Male Siblings

✍ Satoru Kumaki; Hideki Mori; Hitoshi Suzuki 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 403 KB

Fragile X syndrome in two siblings with

Fragile X syndrome in two siblings with major congenital malformations

✍ Giampietro, Philip F.; Haas, Bruce R.; Lipper, Evelyn; Gutman, Alyson; Zellers, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB

We report on 2 brothers with both fragile X and VACTERL-H syndrome. The first sibling, age 5, had bilateral cleft lip and palate, ventricular septal defect, and a hypoplastic thumb. The second sibling, age 2%, had a trachesophageal fistula, esophageal atresia, and vertebral abnormality. High-resolut

Congenital hypertrophic cardiomyopathy,

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome

✍ Eva Morava; Rob Sengers; Henk ter Laak; Lambert van den Heuvel; Antoon Janssen; 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 311 KB