Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

doi:10.1002/ajmga.70046

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Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

American journal of medical genetics. Part A - 1 May 2026

Battiston Guilherme Sotto, Araujo Carolina de Souza, Romera Fernanda Araujo, Ferreira André Luis, Martins Érica Trovisco, de Aguiar Carolina Galhós, Santos José Eduardo Mourão, Ragazzini Rodrigo, Costa-Nobre Daniela Testoni, Prestes Ana Claudia Yoshikumi, de Oliveira Allan Chiaratti, Perrone Eduardo, Melo Débora Gusmão

Abstract excerpt

Marden-Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed. Here, we describe a Brazilian female infant with classic manifestations of MWS, carrying a...

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PMID: 41572728
DOI: 10.1002/ajmga.70046

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PIEZO2

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