Article
Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.
JAMA neurology - 1 Dec 2013
Gonzaga-Jauregui Claudia, Lotze Timothy, Jamal Leila, Penney Samantha, Campbell Ian M, Pehlivan Davut, Hunter Jill V, Woodbury Suzanne L, Raymond Gerald, Adesina Adekunle M, Jhangiani Shalini N, Reid Jeffrey G, Muzny Donna M, Boerwinkle Eric, Lupski James R, Gibbs Richard A, Wiszniewski Wojciech
Abstract excerpt
IMPORTANCE: Patients with rare diseases and complex clinical presentations represent a challenge for clinical diagnostics. Genomic approaches are allowing the identification of novel variants in genes for very rare disorders, enabling a molecular diagnosis. Genomics is also revealing a phenotypic expansion whereby the full spectrum of clinical expression conveyed by mutant alleles at a locus can be better...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.