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    Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios

    Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kid... by Takuya Sakyu, Samantha R. Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C. Braun, Ignatia B. Van den Veyver, Weimin Bi

    Published 2023-02-01
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