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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. Ganapathi M, et al. Among authors: thiffault i. Eur J Hum Genet. 2023 Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27. Eur J Hum Genet. 2023. PMID: 37500725
Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.
Loggia ML, Bushnell MC, Tétreault M, Thiffault I, Bhérer C, Mohammed NK, Kuchinad AA, Laferrière A, Dicaire MJ, Loisel L, Mogil JS, Brais B. Loggia ML, et al. Among authors: thiffault i. J Neurosci. 2009 Feb 18;29(7):2162-6. doi: 10.1523/JNEUROSCI.4633-08.2009. J Neurosci. 2009. PMID: 19228968 Free PMC article.
A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.
Valdmanis PN, Dupré N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA. Valdmanis PN, et al. Among authors: thiffault i. Brain. 2011 Feb;134(Pt 2):602-7. doi: 10.1093/brain/awq329. Epub 2010 Nov 28. Brain. 2011. PMID: 21115467
138 results