Mol Med Rep 2021 Jun 13;23(6). Epub 2021 Apr 13.
Department of Gynecology and Obstetrics, Key Laboratory of Maternal‑Fetal Medicine of Liaoning Province, Key Laboratory of Obstetrics and Gynecology of Higher Education of Liaoning Province, Liaoning Centre for Prenatal Diagnosis, Research Center of China Medical University Birth Cohort, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, P.R. China.
Short rib‑polydactyly syndrome type III (SRPS3) is a lethal perinatal skeletal disorder consisting of polydactyly and multi‑system organ abnormalities. To further assess the pathogenicity of two pairs of compound heterozygotes and to search for novel molecular etiology, X‑rays and hematoxylin and eosin staining were conducted in three cases: Two retrospective samples and a newly identified patient with SRPS3. In addition, next‑generation sequencing was used to evaluate a fetus with SRPS3. Read More