Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree.
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DOI: 10.1177/11206721231167767
Abstract: PURPOSE This study aimed to evaluate the clinical and genetic characteristics of eight members from a Chinese Han family who displayed autosomal recessive bestrophinopathy (ARB)-like retinal changes in autosomal dominant (AD) inheritance pattern. METHODS Clinical… read more here.
Keywords: paradoxical autosomal; recessive bestrophinopathy; autosomal dominant; bestrophinopathy like ... See more keywords