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Article

Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians.

International journal of environmental research and public health - 20 Feb 2022

Defabianis Patrizia, Mussa Alessandro, Ninivaggi Rossella, Carli Diana, Romano Federica

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by various (epi)genetic alterations affecting the expression of genes on chromosome 11p15. Cardinal features include abdominal wall defects, macroglossia, and cancer predisposition. Several (epi)genotype-phenotype associations were described so far, but specific studies on the evolution over time of maxillo-facial phenotype in the...

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Identifiers

PMID: 35206635
DOI: 10.3390/ijerph19042448
PMCID: PMC8872180

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