Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital diaphragm eventration

Congenital Anomalies, EarlyView.

Source: Congenital Anomalies - April 7, 2018 Category: Genetics & Stem Cells Authors: Yoshitomo Yasui , Hitoshi Sato , Yo Niida , Miyuki Kohno Source Type: research