case_images: PMC10512417_01
case_images: The pedigree chart and results of trio-WES. (A) The pedigree chart of this family: black represents the patients, arrow represents the proband, half-blackened circle represents the carrier of BT, oblique line represents the died; (B) The quantified CNVs of trio-WES for the proband and her mother; (C) The copy number of WES_5p15.33-5p15.32 and WES_6p25.3-6p25.1 in this family: III-1 represents the proband, II-1 represents the proband's father, II-2 represents the proband's mother.
case_images: fgene-14-1248544-g001.jpg
case_images: PMC10512417_01_fgene-14-1248544-g001.jpg
case_images: F1
case_images: A pedigree chart of the family is shown in Figure 1A.