leber congenital amaurosis
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
Spectrum and frequency of mutations in <span class="gene" id="16384941-0-39-45">IMPDH1</span> associated with autosomal dominant retinitis pigmentosa and <span class="disease" id="16384941-0-106-132">leber congenital amaurosis</span>.