A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling

Branchiootorenal (BOR) syndrome is a rare autosomal dominant inherited disease with a prevalence of approximately 1 in 40,000 newborns. This disease is characterized by hearing loss, preauricular pits, branchial fistulas or cysts, and renal dysplasia. We discovered a case of BOR syndrome in a premat...

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Detalles Bibliográficos
Autores principales: Kim, Da Hyeon, Yang, Misun, Jo, Heui Seung, Park, JongHo, Jang, JaHyun, Shin, Sunghwan, Son, SeHyung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9856635/
https://www.ncbi.nlm.nih.gov/pubmed/36670626
http://dx.doi.org/10.3390/children10010076

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