Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation. [electronic resource]
Producer: 20170104Description: 1155-64 p. digitalISSN:- 1552-4833
- Biopsy
- Bone Marrow Diseases -- genetics
- Exocrine Pancreatic Insufficiency -- genetics
- Exome -- genetics
- Humans
- Infant, Newborn
- Lipomatosis -- genetics
- Male
- Muscular Diseases -- genetics
- Mutation, Missense
- Myofibrils -- genetics
- Myosins -- biosynthesis
- Proteins -- genetics
- Sequence Analysis, DNA
- Shwachman-Diamond Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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