Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2012_172
Reference28 articles.
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4. Coman D, Bostock D, Hunter M et al (2007) Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. Am J Med Genet A 146A:389–392
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