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A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.

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Description scientific article
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author: Ghada M Abdel-Salam  Ghada Y El-Kamah  Maha M Eid  Ola M. Eid 

Publication date October 11, 2011
Language English
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