Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an “ultrasound first” approach
Volume 36, Issue 1, December 2023 .
Source: Journal of Maternal-Fetal and Neonatal Medicine - Category: Perinatology & Neonatology Authors: Paolo FontanaEmanuele AgoliniDario CocciadiferroLaura Letizia MazzarelliAniello Di MeglioAntonio NovelliGioacchino ScaranoCinzia LombardiMaria CiavarellaFortunato Lonardoa Medical Genetics Unit – P.O. Gaetano Rummo – A.O.R.N, Benevento (BN), Italy San Source Type: research