UFD1L and CDC45L: A role in DiGeorge syndrome and related phenotypes?

G. Novelli, F. Amati, B. Dallapiccola, D. Srivastava, H. Yamagishi

Research output: Contribution to journalShort surveypeer-review

11 Citations (Scopus)


Molecular genetics is contributing to the understanding of normal and abnormal cardiovascular development and morphogenesis. Deletions of chromosome 22q11.2 have been associated with distinct phenotypes that result from a failure to form derivatives of third and fourth branchial arches, including DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS). The biochemical mechanisms underlying these phenotypes remain undetermined. A recent study provides new insight into the mechanism by which gene deletions produce the DGS and VCFS phenotypes.

Original languageEnglish
Pages (from-to)251-253
Number of pages3
JournalTrends in Genetics
Issue number7
Publication statusPublished - 1999
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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