Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
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2. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA;Haack;Am. J. Hum. Genet.,2012
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