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The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian familyMichaela A. H. Hofrichter, Barbara Vona, Thomas Haaf et al.|BMC Medical Genetics|2018Cited by 10
A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous familyReza Maroofian, Maria Rosaria D’Apice, Federica Sangiuolo et al.|Clinical Dysmorphology|2018Cited by 5