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Article

A boy with Silver-Russell syndrome and Sotos syndrome.

American journal of medical genetics. Part A - 1 Feb 2021

Schwaibold Eva M C, Beygo Jasmin, Obeid Katharina, Jauch Anna, Hinderhofer Katrin, Moog Ute

Abstract excerpt

Silver-Russell syndrome (SRS) is characterized by pre- and postnatal growth deficiency. It is most often caused by hypomethylation of the paternal imprinting center 1 of chromosome 11p15.5. In contrast, Sotos syndrome is an overgrowth syndrome that results either from pathogenic NSD1 gene variants or copy number variations affecting the NSD1 gene. Here, we report on a 6 month-old boy with severe short stature,...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 33191647
DOI: 10.1002/ajmg.a.61967

Provenance

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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