Michela Bellardita
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View article: Functional Characterization of a Novel Intronic Variant in <scp><i>PIEZO2</i></scp> in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (<scp>DAIPT</scp>)
Functional Characterization of a Novel Intronic Variant in <span><i>PIEZO2</i></span> in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (<span>DAIPT</span>) Open
Background Distal arthrogryposis with impaired proprioception and touch (DAIPT) is a rare autosomal recessive neurological disease characterized by progressive alteration of mechanosensation. DAIPT is caused by loss of function variants in…