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Article

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.

The Journal of pediatrics - 1 Jan 2013

Dauber Andrew, Stoler Joan, Hechter Eliana, Safer Jason, Hirschhorn Joel N

Abstract excerpt

We present the case of a 19-year-old man with a growth disorder, which was undefined, despite extensive evaluation. Whole exome sequencing demonstrated a novel homozygous frameshift mutation in CUL7, one of the causative genes of 3-M syndrome. We discuss the utility of exome sequencing in diagnos...

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Source

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Identifiers

PMID: 22974575
DOI: 10.1016/j.jpeds.2012.07.055
PMCID: PMC3524393

Genes

CUL7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22974575-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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