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Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
Thibodeau ML, Peters CH, Townsend KN, Shen Y, Hendson G, Adam S, Selby K, Macleod PM, Gershome C, Ruben P, Jones SJM; FORGE Canada Consortium; Friedman JM, Gibson WT, Horvath GA. Thibodeau ML, et al. Among authors: horvath ga. Am J Med Genet A. 2017 Nov;173(11):3087-3092. doi: 10.1002/ajmg.a.38400. Epub 2017 Sep 12. Am J Med Genet A. 2017. PMID: 28898540
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.
Tarailo-Graovac M, Zahir FR, Zivkovic I, Moksa M, Selby K, Sinha S, Nislow C, Stockler-Ipsiroglu SG, Sheffer R, Saada-Reisch A, Friedman JM, van Karnebeek CDM, Horvath GA. Tarailo-Graovac M, et al. Among authors: horvath ga. Mol Genet Genomic Med. 2019 Oct;7(10):e00961. doi: 10.1002/mgg3.961. Epub 2019 Sep 1. Mol Genet Genomic Med. 2019. PMID: 31475481 Free PMC article.
53 results