𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations

✍ Scribed by Renzo Guerrini; Francesca Moro; Eva Andermann; Elaine Hughes; Daniela D'Agostino; Romeo Carrozzo; Andrea Bernasconi; Frances Flinter; Lucio Parmeggiani; Anna Volzone; Elena Parrini; Davide Mei; Jozef M. Jarosz; Robin G. Morris; Polly Pratt; Gaetano Tortorella; François Dubeau; Frederick Andermann; William B. Dobyns; Soma Das


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
146 KB
Volume
54
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A new X-linked syndrome with agenesis of
✍ Graham Jr., John M. ;Wheeler, Patricia ;Tackels-Horne, Darci ;Lin, Angela E. ;Ha 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB 👁 1 views

## Abstract We describe two brothers with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum (ACC). Both boys have low‐set cupped ears with sensorineural hearing loss, normal phall