Publication | Open Access

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

Omim 612713Next GenerationDevelopmental BiologyMendelian DisorderHomozygous Frameshift MutationGenetic DisorderGeneticsInherited Metabolic DiseaseMolecular GeneticsDisease Gene IdentificationGenomicsMedicineClinical Genetics