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Article

Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression.

Clinical dysmorphology - 1 Jul 2000

Russo S, Bedeschi M F, Cogliati F, Natacci F, Gianotti A, Parini R, Selicorni A, Larizza L

Abstract excerpt

Silver-Russell syndrome (SRS) is characterized by a severe intrauterine and postnatal growth retardation, relative macrocephaly associated with 'mild' facial anomalies. The diagnostic importance of skeletal asymmetry remains controversial. The aetiology of the syndrome is heterogeneous. Maternal uniparental disomy of chromosome 7 (mUPD7) has been reported in approximately 7% of patients, but two carriers of...

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Identifiers

PMID: 10955473
DOI: 10.1097/00019605-200009030-00001

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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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