Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease

BACKGROUND: In the present study, we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD). CASE PRESENTATION: This healthy couple had previously had a healthy boy but had experienced two consecutive neonatal deaths due to respiratory d...

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Dades bibliogràfiques
Publicat a:BMC Med Genet
Autors principals: Miyazaki, Jun, Ito, Mayuko, Nishizawa, Haruki, Kato, Takema, Minami, Yukito, Inagaki, Hidehito, Ohye, Tamae, Miyata, Masafumi, Boda, Hiroko, Kiriyama, Yuka, Kuroda, Makoto, Sekiya, Takao, Kurahashi, Hiroki, Fujii, Takuma
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4623244/
https://ncbi.nlm.nih.gov/pubmed/26502924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0245-3
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