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

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 p...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8770796/
https://www.ncbi.nlm.nih.gov/pubmed/35046468
http://dx.doi.org/10.1038/s41598-022-04885-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8770796/
https://www.ncbi.nlm.nih.gov/pubmed/35046468
http://dx.doi.org/10.1038/s41598-022-04885-w

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