A Report of a Novel Pathogenic Variant in a Family with Buschke-Ollendorf Syndrome
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Buschke-Ollendorf Syndrome (BOS) is a benign autosomal dominant disorder caused by pathogenic mutations in LEMD3 . Here, we describe a family diagnosed to have varied phenotypes associated with BOS. Single gene testing of LEMD3 detected a heterozygous frameshi... ...
