Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12 C Moss, SM Srinivas, N Sarveswaran, M Nahorski, VK Gowda, ... British journal of dermatology 179 (5), 1135-1140, 2018 | 21 | 2018 |
Extending the phenotype of midface toddler excoriation syndrome (MiTES): Five new cases in three families with PR domain containing protein 12 (PRDM12) mutations AC Inamadar, K Vinay, B Olabi, N Sarveswaran, A Bishnoi, CG Woods, ... Journal of the American Academy of Dermatology 81 (6), 1415-1417, 2019 | 7 | 2019 |
Functional SNP allele discovery (fSNPd): an approach to find highly penetrant, environmental-triggered genotypes underlying complex human phenotypes K Stouffer, M Nahorski, P Moreno, N Sarveswaran, D Menon, M Lee, ... BMC genomics 18 (1), 1-7, 2017 | 6 | 2017 |
Exploring Pain Neurobiology: Molecular Investigation of Genetic Sensory Disorders N Sarveswaran University of Cambridge, 2022 | | 2022 |
The enigma of Midfacial Toddler Excoriation Syndrome (MiTES), a second PRDM12 poly-alanine tract expansion disorder N Sarveswaran, G Woods, C Moss EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 198-199, 2020 | | 2020 |
Biallelic PRDM12 mutations in MiTES C Moss, SM Srinivas, N Sarveswaran, M Nahorski, VK Gowda, ... British Journal of Dermatology 179 (5), e206-e206, 2018 | | 2018 |
MiTES 中等位基因 PRDM12 突变 C Moss, SM Srinivas, N Sarveswaran, M Nahorski, VK Gowda, ... British Journal of Dermatology 179 (5), e220-e220, 2018 | | 2018 |