Extension of the phenotype of biallelic loss-of-function...

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Clinical Genetics 2017 / 06

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I

Braunisch, M. C., Gallwitz, H., Abicht, A., Diebold, I., Holinski-Feder, E., Van Maldergem, L., Lammens, M., Kovács-Nagy, R., Alhaddad, B., Strom, T. M., Meitinger, T., Senderek, J., Rudnik-Schöneborn
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Language:
english
Journal:
Clinical Genetics
DOI:
10.1111/cge.13084
Date:
June, 2017
File:
PDF, 1.93 MB
english, 2017
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