2.1. Pedigree Analysis of Children with Short Stature

Patients were recruited from the Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children’s Hospital of Fudan University. WES was performed on five independent Chinese families with familial short stature fulfilling the following diagnostic criteria: height standard deviation score (HSDS) ≤ −2, excluding chromosome abnormality, diagnosed congenital bone diseases, and secondary short stature. Birth weights, birth body lengths, and heights at each visit were accessed. Small for gestational age (SGA, defined as birth height or birth weight <P3 for gestational age) was defined using the national standards [14]. This study was approved by the Children’s Hospital Ethics Committee of the Children’s Hospital of Fudan University. Written informed consent was obtained from all participants or legal guardians.