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Article

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

Trends in genetics : TIG - 1 Jul 1999

Novelli G, Amati F, Dallapiccola B

Abstract excerpt

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...

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Identifiers

PMID: 10390621
DOI: 10.1016/s0168-9525(99)01772-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.Semantic proximity Read ↗

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DiGeorge syndrome: an update.Semantic proximity Read ↗

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