Fig. 2From: Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case reportSequenogram of NF1 gene exon 13 and COMP gene exon 13 of family members. The genetic analysis identified a heterozygous pathogenic variant in the NF1 (c.1479_1480delCTinsG) and COMP (c.1319G > A) genes in the index patient (III.1). The same heterozygous pathogenic variant in the NF1 and COMP gene was detected in the mother (II.3) and in the father (II.4), respectivelyBack to article page