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Article

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Aug 2011

Kenny Joanna, Lees Melissa M, Drury Susan, Barnicoat Angela, Van't Hoff William, Palmer Rodger, Morrogh Deborah, Waters Jonathan J, Lench Nicholas J, Bockenhauer Detlef

Abstract excerpt

Sotos syndrome is characterized by overgrowth, a typical facial appearance, and learning difficulties. It is caused by heterozygous mutations, including deletions, of NSD1 located at chromosome 5q35. Here we report two unrelated cases of Sotos syndrome associated with nephrocalcinosis. One patient also had idiopathic infantile hypercalcemia. Genetic investigations revealed heterozygous deletions at 5q35 in both...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21597970
DOI: 10.1007/s00467-011-1884-z

Genes

NSD1

Provenance

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.

Related research

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Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.PMID 21597970Read ↗

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