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Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
BMC Med Genet. 2015 Sep 21;16:84. doi: 10.1186/s12881-015-0224-8.
BMC Med Genet. 2015.
PMID: 26392352
Free PMC article.
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.
Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P.
Pedurupillay CR, et al.
Neuromuscul Disord. 2016 Sep;26(9):570-5. doi: 10.1016/j.nmd.2016.06.457. Epub 2016 Jun 22.
Neuromuscul Disord. 2016.
PMID: 27450922
Free article.
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