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

• Egile Nagusiak: Da Hyeon Kim (Egilea), Misun Yang (Egilea), Heui Seung Jo (Egilea), JongHo Park (Egilea), JaHyun Jang (Egilea), Sunghwan Shin (Egilea), SeHyung Son (Egilea)
• Formatua: Liburua
• Argitaratua: MDPI AG, 2022-12-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...