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Article

Role of OVCA1/DPH1 in craniofacial abnormalities of Miller-Dieker syndrome.

Human molecular genetics - 1 Nov 2014

Yu Yi-Ru, You Li-Ru, Yan Yu-Ting, Chen Chun-Ming

Abstract excerpt

OVCA1/DPH1 (OVCA1) encodes a component of the diphthamide biosynthesis pathway and is located on chromosome 17p13.3. Deletions in this region are associated with Miller-Dieker syndrome (MDS). Ovca1/Dph1 (Ovca1)-null mice exhibit multiple developmental defects, including cleft palate, growth restriction and perinatal lethality, suggesting a role in the craniofacial abnormalities associated with MDS. Conditional...

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Identifiers

PMID: 24895408
DOI: 10.1093/hmg/ddu273

Genes

DPH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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