A new X-linked syndrome with agenesis of
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Graham Jr., John M. ;Wheeler, Patricia ;Tackels-Horne, Darci ;Lin, Angela E. ;Ha
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Article
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2003
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John Wiley and Sons
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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