case_images: PMC8249922_01
case_images: Information on case 1. (A) Growth curve. (B) Plain X-ray of left hand and wrist. (C) Pedigree.
case_images: fendo-12-691490-g001.jpg
case_images: PMC8249922_01_fendo-12-691490-g001.jpg
case_images: f1
case_images: With regard to his growth curve, further follow-up revealed that he grew to 105.8 cm (SDS = -2.39) in height and 17 kg (SDS = -1.58) in weight at 5-year-10-month-old ( Figure 1 ). This finding was further confirmed by Sanger sequencing using DNA samples from this patient and his parents. The patient inherited this missense mutation from his mother, while his father did not harbor any mutations at this site ( Figure 1 ). A low GH peak (2.80 ng/mL) was also observed in the L-dopa GH provocative test ( Supplementary Figure 1 ).
case_images: Information on case 2. (A) Growth curve. (B) Plain X-ray of left hand and wrist. (C) Pedigree.
case_images: fendo-12-691490-g002.jpg
case_images: PMC8249922_01_fendo-12-691490-g002.jpg
case_images: f2
case_images: While both this patient and her mother were heterozygous for this mutation, her father and healthy sister were normal at this site ( Figure 2 ). As shown in  Supplementary Figure 2 , this mutation may hamper the ligand binding capacity of the LDL receptor.