Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.

Topa, Alexandra

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation. [electronic resource] - American journal of medical genetics. Part A May 2016 - 1155-64 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.37593 doi


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