Autor: Qingqiu Cheng
-
Case Report: Deciphering a de novo complex chromosomal rearrangement causing premature ovarian insufficiency, short stature, and mild intellectual disability using long-read sequencing
ObjectivePremature ovarian insufficiency (POI) with short stature and mild intellectual disability can have diverse genetic etiologies. We aimed to decipher the genetic basis of this complex phenotype in a 26-year-old female with a karyotype lacking an…