Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
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Wei Chen | A. Tzschach | R. Ullmann | H. Ropers | K. Kahrizi | H. Najmabadi | M. Garshasbi | S. S. Abedini | A. Kuss | R. Kariminejad | S. Ghadami | C. Hu
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