Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene
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'En bloc' inheritance of point mutations in adjacent genes has rarely been described. We have previously reported a family with severe, mostly early-lethal, Joubert syndrome (JBTS) with early-onset severe retinal dystrophy (EOSRD) and polycystic kidney disea... ...
