Fig. 6From: The Buschke–Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the handElectropherogram from Sanger sequencing confirming the heterozygous mutation c.1832T>A detected by next generation sequencing in our patient. The mutation in exon 6 of the LEMD3 gene is predicted to result in a premature stop codon at position 611 (p.Leu611*) of the protein (reference sequence LEMD3 according to GenBank NM_014319.4)Back to article page