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Research: 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

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Research: 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

Congenit Anom (Kyoto). 2019 Jan;59(1):22-23. doi: 10.1111/cga.12280. Epub 2018 Apr 6.

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

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 Y1Sato H2Niida Y3Kohno M1.

Author information

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]

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