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

We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1. This is the first case of autosomal recessive polycystic kidney disease (ARPKD) with a prenatally detect...

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Detalles Bibliográficos
Autores principales: Sakyu, Takuya, Stover, Samantha R., Wang, Yue, Ward, Patricia, Gandhi, Manisha, Braun, Michael C., Van den Veyver, Ignatia B., Bi, Weimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950036/
https://www.ncbi.nlm.nih.gov/pubmed/36846174
http://dx.doi.org/10.1002/ccr3.6692

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950036/
https://www.ncbi.nlm.nih.gov/pubmed/36846174
http://dx.doi.org/10.1002/ccr3.6692

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