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Article

Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty.

The Journal of pediatrics - 1 Jun 1999

Fokstuen S, Ginsburg C, Zachmann M, Schinzel A

Abstract excerpt

Uniparental disomy for particular chromosomes is increasingly recognized as a cause of abnormal phenotypes in humans either as a result of imprinted genes or, in the case of isodisomy, homozygosity of mutated recessive alleles. We report on the occurrence of maternal uniparental disomy for chromosome 14 (matUPD 14) in a 25-year-old woman with a normal karyotype, normal intelligence but low birth weight, short...

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Share to Aneuploidy
Share to Chromosomes, Human, Pair 14
Share to Fetal Growth Retardation

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

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Source

Identifiers

PMID: 10356135
DOI: 10.1016/s0022-3476(99)70282-9

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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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