A novel PKD1 variant in a patient with very-early-onset ADPKD

Tomomi Kondoh; Takuma Ando; Yuji Matsumoto; Naonori Kumagai; Yu Tanaka; Naoya Morisada; Kandai Nozu; Yohei Ikezumi

doi:10.1038/s41439-025-00333-z

A novel PKD1 variant in a patient with very-early-onset ADPKD

Tomomi Kondoh
, Takuma Ando
, Yuji Matsumoto
, Naonori Kumagai
, Yu Tanaka
, Naoya Morisada
, Kandai Nozu
, Yohei Ikezumi

Pediatrics

Research output: Contribution to journal › Article › peer-review

Original language	English
Article number	28
Journal	Human Genome Variation
Volume	12
Issue number	1
DOIs	https://doi.org/10.1038/s41439-025-00333-z
Publication status	Published - 12-2025

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Genetics

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10.1038/s41439-025-00333-z

Cite this

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title = "A novel PKD1 variant in a patient with very-early-onset ADPKD",

author = "Tomomi Kondoh and Takuma Ando and Yuji Matsumoto and Naonori Kumagai and Yu Tanaka and Naoya Morisada and Kandai Nozu and Yohei Ikezumi",

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doi = "10.1038/s41439-025-00333-z",

language = "English",

volume = "12",

journal = "Human Genome Variation",

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AU - Kondoh, Tomomi

AU - Ando, Takuma

AU - Matsumoto, Yuji

AU - Kumagai, Naonori

AU - Tanaka, Yu

AU - Morisada, Naoya

AU - Nozu, Kandai

AU - Ikezumi, Yohei

PY - 2025/12

Y1 - 2025/12

UR - https://www.scopus.com/pages/publications/105023327622

UR - https://www.scopus.com/pages/publications/105023327622#tab=citedBy

U2 - 10.1038/s41439-025-00333-z

DO - 10.1038/s41439-025-00333-z

M3 - Article

AN - SCOPUS:105023327622

SN - 2054-345X

VL - 12

JO - Human Genome Variation

JF - Human Genome Variation

IS - 1

M1 - 28

ER -

A novel PKD1 variant in a patient with very-early-onset ADPKD

All Science Journal Classification (ASJC) codes

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