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Fig. 1 | BMC Cardiovascular Disorders

Fig. 1

From: Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy

Fig. 1

The image presents pedigree, sequencing chromatograms, and neurofibromatosis type 1 clinical manifestations in a family affected by NF1 mutation. (A) The pedigree of an Iranian family with NF1. Only the proband (III-1) is affected (pointed with an arrow). (B) The snapshot of the sequencing reads: The proband (III-I) carries the c.3277G > A variant in a heterozygous status. The black arrow shows the location of the mutated nucleotide. (C) Clinical manifestations of the proband (III-1) with NF1 which includes multiple brown spots in different parts of the patient’s body

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BMC Cardiovascular Disorders

ISSN: 1471-2261

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