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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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.
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