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Article

Maternal uniparental disomy 7--review and further delineation of the phenotype.

European journal of pediatrics - 1 Apr 2000

Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel B C, Ilyina H, Krajewska-Walasek M, Lurie I W, Otten B J, Schoenle E, Tariverdian G, Schinzel A

Abstract excerpt

UNLABELLED: Uniparental disomy (UPD) is defined as the inheritance of both homologous chromosomes from only one parent. So far, maternal UPD 7 has been described in 28 cases. Here, we report 4 new cases, present clinical information of 5 cases previously reported by us, and review the clinical an...

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Share to Abnormalities, Multiple
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Share to Chromosomes, Human, Pair 7

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10789928
DOI: 10.1007/s004310050064

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10789928-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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