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Akademický článek

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

Autor: Da Hyeon Kim, Misun Yang, Heui Seung Jo, JongHo Park, JaHyun Jang, Sunghwan Shin, SeHyung Son

Publikováno v: Children, Vol 10, Iss 1, p 76 (2022)

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

Externí odkaz: https://doaj.org/article/a2a719111d3442169046609cc1c67e36

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Akademický článek

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

Autor: Kim, Da Hyeon, Yang, Misun, Jo, Heui Seung, Park, JongHo, Jang, JaHyun, Shin, Sunghwan, Son, SeHyung

Publikováno v: Children; Jan2023, Vol. 10 Issue 1, p76, 10p

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Periodical

Research on Pediatrics Detailed by Researchers at Samsung Medical Center (A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling).

Publikováno v: Genomics & Genetics Weekly; 2/10/2023, p1899-1899, 1p

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