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Article

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

European journal of medical genetics - 1 Jan 2000

Hanemaaijer Nicolien, Dijkhuizen Trijnie, Haadsma Maaike, Boeve Margot, Boon Maartje, Hordijk Roel, Kok Klaas, Sikkema-Raddatz Birgit, van Ravenswaaij-Arts Conny M A

Abstract excerpt

We report on a male patient with intra-uterine growth retardation, microcephaly, coloboma, laryngomalacia and developmental delay. Array CGH analysis revealed a 649 kb duplication on chromosome 1p34.1. Only five patients with overlapping duplications have been reported thus far. Ten known genes are located in the duplicated region, including the POMGNT1 gene encoding for O-mannose...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19452620
DOI: 10.1016/j.ejmg.2009.01.005

Genes

POMGNT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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