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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain. 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204.
Brain. 2020.
PMID: 32761064
Free PMC article.
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
Fischer C, Trajanoski S, Papić L, Windpassinger C, Bernert G, Freilinger M, Schabhüttl M, Arslan-Kirchner M, Javaher-Haghighi P, Plecko B, Senderek J, Rauscher C, Löscher WN, Pieber TR, Janecke AR, Auer-Grumbach M.
Fischer C, et al. Among authors: javaher haghighi p.
J Neurol. 2012 Mar;259(3):515-23. doi: 10.1007/s00415-011-6213-8. Epub 2011 Sep 4.
J Neurol. 2012.
PMID: 21892769
Free PMC article.
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