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Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease.

Klinische Padiatrie - 1 Sept 2021

Meyer Sascha, Meyberg-Solomayer Gabriele, König Rainer, Geuer Sinje, Geipel Martina, Nourkami-Tutdibi Nasesien, Oehl-Jaschkowitz Barbara, Lindner Ulrike, Marquardt Thorsten

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PMID: 34102701
DOI: 10.1055/a-1481-9016

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