A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.
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Am J Med Genet A. 2012 Aug;158A(8):1815-22. doi: 10.1002/ajmg.a.35445. Epub 2012 Jun 18.
Am J Med Genet A. 2012.
PMID: 22711505
Free PMC article.