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X-linked mental retardation with dystonic movements of the hands (PRTS): Revisited

✍ Scribed by Gedeon, Agi ;Partington, Michael ;Mulley, John

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 230 KB
Volume: 51
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320510454

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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