EDS
Homozygosity for a SLC39A13 loss of function mutation was detected in sibs affected by a unique variant of EDS that recapitulates the phenotype observed in Slc39a13-KO mice.
Homozygosity for a <span class="gene" id="18985159-5-19-27">SLC39A13</span> loss of function mutation was detected in sibs affected by a unique variant of <span class="disease" id="18985159-5-107-110">EDS</span> that recapitulates the phenotype observed in <span class="gene" id="18985159-5-156-164">Slc39a13</span>-KO mice.