Fig. 3

Pedigree of the patient with mutations in TMEM173. (A) Solid symbols indicate affected relatives, open symbols indicate unaffected relatives, squares represent female persons, and circle represent male persons. H denotes heterozygous mutated gene, NM denotes nonmutated gene. P denotes the proband, F denotes the father of the proband. (B) Whole-exome sequencing (WES) filtering was performed on patients and his relatives. M denotes the mother of the proband, S denotes the sister of the proband, GF denotes the grandfather of the proband, GM denotes the grandmother of the proband