Fig. 3

Electropherogram of DNA sequence of the CAVIN1 gene showing a homozygous variant c.631G < T resulting in the p.E211X mutation (codon is underlined) in the patient
Electropherogram of DNA sequence of the CAVIN1 gene showing a homozygous variant c.631G < T resulting in the p.E211X mutation (codon is underlined) in the patient