Congenit Anom (Kyoto). 2019 Jan;59(1):22-23. doi: 10.1111/cga.12280. Epub 2018 Apr 6.
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.
1Department of Pediatric Surgery, Kanazawa Medical University, Ishikawa, Japan.2Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan.3Division of Clinical Genetics, Kanazawa Medical University, Ishikawa, Japan.PMID: 29575095 DOI: 10.1111/cga.12280[Indexed for MEDLINE]