Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2022

Odanaka Yutaka, Ashida Akira, Nemoto Shintaro, Hamanaka Kohei, Matsumoto Naomichi

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Phenotype
Share to Cell Cycle Proteins
Share to Chromosomal Proteins, Non-Histone
Share to De Lange Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Structural Maintenance of Chromosome Protein 1

Source

Identifiers

PMID: 35396801
DOI: 10.1111/ped.15031

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant.PMID 35396801Read ↗

Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.Semantic proximity Read ↗

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.Semantic proximity Read ↗

A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy.Semantic proximity Read ↗

[Cornelia de Lange syndrome caused by SMC1A gene variation in a child].Semantic proximity Read ↗

Cornelia de Lange Spectrum.Semantic proximity Read ↗

Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.Semantic proximity Read ↗

[A case of neonatal Cornelia de Lange syndrome caused by a novel variant of SMC1A gene].Semantic proximity Read ↗

Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.Semantic proximity Read ↗

Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.Semantic proximity Read ↗

De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.Semantic proximity Read ↗

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.