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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.

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]

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