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Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.
Wadey R, McKie J, Papapetrou C, Sutherland H, Lohman F, Osinga J, Frohn I, Hofstra R, Meijers C, Amati F, Conti E, Pizzuti A, Dallapiccola B, Novelli G, Scambler P. Wadey R, et al. Among authors: frohn i. Am J Hum Genet. 1999 Jul;65(1):247-9. doi: 10.1086/302468. Am J Hum Genet. 1999. PMID: 10364538 Free PMC article. No abstract available.