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Article

Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2020

Rodolico Carmelo, Politano Luisa, Portaro Simona, Murru Stefania, Boccone Loredana, Sera Francesco, Passamano Luigia, Brizzi Teresa, Tupler Rossella

Abstract excerpt

Among 1339 unrelated cases accrued by the Italian National Registry for facioscapulohumeral muscular dystrophy (FSHD), we found three unrelated cases who presented signs of Williams-Beuren Syndrome (WBS) in early childhood and later developed FSHD. All three cases carry the molecular defects associated with the two disorders. The rarity of WBS and FSHD, 1 in 7500 and 1 in 20,000 respectively, makes a random...

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Source

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Identifiers

PMID: 32553920
DOI: 10.1016/j.ejpn.2020.05.006
PMCID: PMC7427329

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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