Associated Papers
Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.
Battiston GS et al.
American Journal of Medical Genetics. Part A, 2026
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
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Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.
Abdel-Salam GMH et al.
Molecular Syndromology, 2022
PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group.
Sherlaw-Sturrock CA et al.
American Journal of Medical Genetics. Part A, 2022
Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.
Seidahmed MZ et al.
American Journal of Medical Genetics. Part A, 2021
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