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Article

De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia.

Clinical dysmorphology - 1 Apr 2017

Rawlins Lettie E, Stals Karen L, Eason Julian D, Turnpenny Peter D

Abstract excerpt

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Topics

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Share to Codon, Nonsense
Share to Comparative Genomic Hybridization
Share to Fatal Outcome
Share to Hernias, Diaphragmatic, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Malformations of Cortical Development

Share to Methyltransferases

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Source

Identifiers

PMID: 28263952
DOI: 10.1097/MCD.0000000000000144

Genes

SETD5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia.PMID 28263952Read ↗

Expanding the Genotype and Phenotype of SETD5-Related Neurodevelopmental Syndrome.Semantic proximity Read ↗

De novo variant of SETD1A causes neurodevelopmental disorder with dysmorphic facies: A case report.Semantic proximity Read ↗

Expanding the spectrum of ADNP-related disorder-Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene.Semantic proximity Read ↗

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.Semantic proximity Read ↗

Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry.Semantic proximity Read ↗

De novo mutation in DEPDC5 associated with unilateral pachygyria and intractable epilepsy.Semantic proximity Read ↗

The Role of De Novo Variants in Patients with Congenital Diaphragmatic Hernia.Semantic proximity Read ↗

Clinical Insights Into a Rare SETD2 Disorder: Report of a Novel Variant.Semantic proximity Read ↗

Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.Semantic proximity Read ↗

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.Semantic proximity Read ↗

Increased burden ofde novopredicted deleterious variants in complex congenital diaphragmatic herniaSemantic proximity Read ↗

Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic herniaSemantic proximity Read ↗

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