TY - JOUR AU - Jain, Angita; Selvam, Pavalan; Atwal, Herjot; Atwal, Paldeep S. TI - A Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome SN - 2146-4596 SN - 2146-460X PY - 2020 JO - J Pediatr Genet JF - Journal of Pediatric Genetics LA - EN VL - 09 IS - 01 SP - 063 EP - 065 ET - 2019/08/26 DA - 2020/01/22 KW - familial Buschke–Ollendorf syndrome KW - osteopoikilosis KW - collagenoma KW - LEMD3 AB - 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 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. PB - Georg Thieme Verlag KG DO - 10.1055/s-0039-1694767 UR - http://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0039-1694767 ER -