Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome

Background: Branchio-oto-renal syndrome (BOR) and branchio-oto syndrome (BOS) are rare autosomal dominant disorders defined by varying combinations of branchial, otic, and renal anomalies. Here, we characterized the clinical features and genetic etiology of BOR/BOS in several Chinese families and th...

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Detalles Bibliográficos
Autores principales: Feng, Haifeng, Xu, Hongen, Chen, Bei, Sun, Shuping, Zhai, Rongqun, Zeng, Beiping, Tang, Wenxue, Lu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8634836/
https://www.ncbi.nlm.nih.gov/pubmed/34868248
http://dx.doi.org/10.3389/fgene.2021.765433

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