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Article

Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.

Scientific reports - 19 Jan 2022

Masuda Masatsugu, Kanno Ayako, Nara Kiyomitsu, Mutai Hideki, Morisada Naoya, Iijima Kazumoto, Morimoto Noriko, Nakano Atsuko, Sugiuchi Tomoko, Okamoto Yasuhide, Masuda Sawako, Katsunuma Sayaka, Ogawa Kaoru, Matsunaga Tatsuo

Abstract excerpt

Some patients have an atypical form of branchio-oto-renal (BOR) syndrome, which does not satisfy the diagnostic criteria, despite carrying a pathogenic variant (P variant) or a likely pathogenic variant (LP variant) of a causative gene. P/LP variants phenotypic indices have yet to be determined in patients with typical and atypical BOR syndrome. We hypothesized that determining phenotypic and genetic differences...

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Identifiers

PMID: 35046468
DOI: 10.1038/s41598-022-04885-w
PMCID: PMC8770796

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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