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Finding new etiologies of mental retardation and hypotonia: X marks the spot

✍ Scribed by R Curtis Rogers; Roger E Stevenson; Richard J Simensen; Kenton R Holden; Charles E Schwartz


Book ID
111130722
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
837 KB
Volume
50
Category
Article
ISSN
0012-1622

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We describe a brother and sister with severe developmental delay, hypotonia, partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter degenerative abnormalities, macrocrania, frontal bossing, deep-set eyes, and hypertelorism. The brother also had Duane syndrome type II and an