Buschke-Ollendorf Syndrome (BOS) is a benign autosomal dominant disorder caused by pathogenic mutations in . Here, we describe a family diagnosed to have varied phenotypes associated with BOS. Single gene testing of detected a heterozygous frameshift pathogenic variant in both the affected family members. Besides the phenotypic description, this report highlights the need for a comprehensive evaluation in connective tissue disorders and the importance of genotype-phenotype correlation in BOS.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976315 | PMC |
| http://dx.doi.org/10.1055/s-0039-1694767 | DOI Listing |
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