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Article

Familial Beckwith-Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping.

American journal of medical genetics. Part A - 1 Feb 2023

Best Lyle G, Duffy Kelly A, George Andrew M, Ganguly Arupa, Kalish Jennifer M

Abstract excerpt

Beckwith-Wiedemann Spectrum (BWSp) is an overgrowth and cancer predisposition disorder characterized by a wide spectrum of phenotypic manifestations including macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embryonal tumors. In 1981, Best and Hoekstra reported four patients with BWSp in a single family which suggested autosomal dominant inheritance, but standard clinical testing...

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PMID: 36322462
DOI: 10.1002/ajmg.a.63026

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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