Associated Papers
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).
Bellardita M et al.
Molecular Genetics & Genomic Medicine, 2025
40772608 (PubMed )
Supplement: MGG3-13-e70126-s002.docx
Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature.
Behunova J et al.
Molecular Syndromology, 2019
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