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Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation

✍ Scribed by Annunziata, Ida ;Lanzara, Carmela ;Conte, Ivan ;Zullo, Alberto ;Ventruto, Valerio ;Rinaldi, Maria Michela ;D'Urso, Michele ;Casari, Giorgio ;Ciccodicola, Alfredo ;Miano, Maria Giuseppina

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
100 KB
Volume
118A
Category
Article
ISSN
0148-7299

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## 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