BBS
Here we show that mutations in MKS1, MKS3 and CEP290 (also known as NPHP6) either can cause Bardet-Biedl syndrome (BBS) or may have a potential epistatic effect on mutations in known BBS-associated loci.
Here we show that mutations in MKS1, MKS3 and <span class="gene" id="18327255-3-46-52">CEP290</span> (also known as <span class="gene" id="18327255-3-68-73">NPHP6</span>) either can cause <span class="disease" id="18327255-3-92-113">Bardet-Biedl syndrome</span> (<span class="disease" id="18327255-3-115-118">BBS</span>) or may have a potential epistatic effect on mutations in known <span class="disease" id="18327255-3-183-186">BBS</span>-associated loci.