Link: 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.

Link: https://www.ncbi.nlm.nih.gov/pubmed/29575095

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.
Yasui Y1, Sato H2, Niida Y3, Kohno M1.
Author information
1
Department of Pediatric Surgery, Kanazawa Medical University, Ishikawa, Japan.
2
Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan.
3
Division of Clinical Genetics, Kanazawa Medical University, Ishikawa, Japan.
PMID: 29575095 DOI: 10.1111/cga.12280
[Indexed for MEDLINE]