Article
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.
European journal of human genetics : EJHG - 1 Jun 2023
Li Qifei, Agrawal Rohan, Schmitz-Abe Klaus, Genetti Casie A, Fernandes Melissa A, Fryou Noah L, Madden Jill A, Brownstein Catherine A, Smith Edward C, Rajabi Farrah, Beggs Alan H, Agrawal Pankaj B
Abstract excerpt
Clinical exome/genome sequencing is increasingly being utilized by clinicians to diagnose various likely genetic conditions, but many cases remain undiagnosed. In a subset of those undiagnosed cases, a single heterozygous variant in an autosomal recessive (AR) condition with consistent phenotype may be identified, raising the question if a second variant is missing. Here, we report two cases of recessive...
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