Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
Herebian D, Alhaddad B, Seibt A, Schwarzmayr T, Danhauser K, Klee D, Harmsen S, Meitinger T, Strom TM, Schulz A, Mayatepek E, Haack TB, Distelmaier F.
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Eur J Hum Genet. 2017 Sep;25(9):1092-1095. doi: 10.1038/ejhg.2017.96. Epub 2017 Jun 14.
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PMID: 28612835
Free PMC article.