MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

Mohammad K. Eldomery, Zeynep C. Akdemir, F. Nora Vögtle, Wu Lin Charng, Patrycja Mulica, Jill A. Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C. Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N. Jhangiani, Holly H. Zimmerman, Donna M. Muzny, Xia Wang, Jia Tang, Ravi Medikonda, Prasanna V. Ramachandran, Lee Jun Wong, Eric BoerwinkleRichard A. Gibbs, Christine M. Eng, Seema R. Lalani, Jozef Hertecant, Richard J. Rodenburg, Omar A. Abdul-Rahman, Yaping Yang, Fan Xia, Meng C. Wang, James R. Lupski, Chris Meisinger, V. Reid Sutton

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38 Scopus citations

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Biochemistry, Genetics and Molecular Biology