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Article

Brain abnormalities in patients with Beckwith-Wiedemann syndrome.

American journal of medical genetics. Part A - 1 Jun 2012

Gardiner Kate, Chitayat David, Choufani Sanaa, Shuman Cheryl, Blaser Susan, Terespolsky Deborah, Farrell Sandra, Reiss Rosemary, Wodak Shoshana, Pu Shuye, Ray Peter N, Baskin Berivan, Weksberg Rosanna

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder with variability in clinical manifestations and molecular causes. In most cases, patients with BWS have normal development. Cases with developmental delay are usually attributed to neonatal hypoglycemia or chromosome abnormalities involv...

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Share to Beckwith-Wiedemann Syndrome
Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cyclin-Dependent Kinase Inhibitor p57

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Share to Fatal Outcome

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Source

Identifiers

PMID: 22585446
DOI: 10.1002/ajmg.a.35358

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22585446-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

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Brain abnormalities in patients with Beckwith-Wiedemann syndrome.PMID 22585446Read ↗

Molecular genetics of Beckwith-Wiedemann syndromeSemantic proximity Read ↗

[Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement].Semantic proximity Read ↗

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locusSemantic proximity Read ↗

Diagnosis and Management of Beckwith-Wiedemann SyndromeSemantic proximity Read ↗

Molecular genetics of Wiedemann-Beckwith syndromeSemantic proximity Read ↗

Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum.Semantic proximity Read ↗

Expanded phenotype and cancer risk in patients with Beckwith-Wiedemann spectrum caused by CDKN1C variants.Semantic proximity Read ↗

Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.Semantic proximity Read ↗

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith-Wiedemann syndrome: A case report.Semantic proximity Read ↗

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