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
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H. Rehder | F. Laccone | G. Gras | Maria Gerykova Bujalkova | S. Kircher | J. Behunova | Thomas Taylor | Ulrike Ihm