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

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

Abstract 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 determ...

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Bibliographic Details
Main Authors: Masatsugu Masuda, Ayako Kanno, Kiyomitsu Nara, Hideki Mutai, Naoya Morisada, Kazumoto Iijima, Noriko Morimoto, Atsuko Nakano, Tomoko Sugiuchi, Yasuhide Okamoto, Sawako Masuda, Sayaka Katsunuma, Kaoru Ogawa, Tatsuo Matsunaga
Format: Article
Language:English
Published: Nature Portfolio 2022-01-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-022-04885-w

Internet

https://doi.org/10.1038/s41598-022-04885-w

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