Skip to main content
. Author manuscript; available in PMC: 2023 Mar 1.
Published in final edited form as: Mol Genet Metab. 2022 Feb 1;135(3):221–229. doi: 10.1016/j.ymgme.2022.01.103

Figure 1. Clinical presentation of PUS7 deficient patients.

Figure 1.

A) Both siblings showed mild facial dysmorphology. B) Family pedigree with results of segregation analysis for PUS7 variants. C) Table of significant clinical findings.