Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Lone Sandbjerg Hindbæk"'
Autor:
Nanna Dahl Rendtorff, Øivind Nilssen, Pernille Mathiesen Tørring, Marika F. Moldenæs, Lone Sandbjerg Hindbæk, Lisbeth Tranebjærg
Publikováno v:
Moldenæs, M F, Rendtorff, N D, Hindbæk, L S, Tørring, P M, Nilssen, Ø & Tranebjærg, L 2021, ' Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome ', European Journal of Medical Genetics, vol. 64, no. 9, 104265 . https://doi.org/10.1016/j.ejmg.2021.104265
The SRY-related HMG box gene 10 (SOX10), located on 22q13.1, encodes a member of the SOX family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate and differentiation. SOX10 is one of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a5f8b73c9b80a737751145219db75a4
https://hdl.handle.net/10037/22718
https://hdl.handle.net/10037/22718
Autor:
Helena Gásdal Karstensen, Kresten Lindorff-Larsen, Nanna Dahl Rendtorff, Lone Sandbjerg Hindbæk, Allan Thomas Højland, Niels H Birkebaek, Rasmus Hartmann-Petersen, Lisbeth Tranebjærg, Roberto Colombo, Amelie Stein, Michael B. Petersen
Publikováno v:
Karstensen, H G, Rendtorff, N D, Hindbæk, L S, Colombo, R, Stein, A, Birkebæk, N H, Hartmann-Petersen, R, Lindorff-Larsen, K, Højland, A T, Petersen, M B & Tranebjærg, L 2020, ' Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome ', European Journal of Medical Genetics, vol. 63, no. 3, 103733 . https://doi.org/10.1016/j.ejmg.2019.103733
Karstensen, H G, Rendtorff, N D, Hindbæk, L S, Colombo, R, Stein, A, Birkebæk, N H, Hartmann-Petersen, R, Lindorff-Larsen, K, Højland, A T, Petersen, M B & Tranebjærg, L 2020, ' Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome ', European Journal of Medical Genetics, vol. 63, no. 3, 103733, pp. 103733 . https://doi.org/10.1016/j.ejmg.2019.103733
Karstensen, H G, Rendtorff, N D, Hindbæk, L S, Colombo, R, Stein, A, Birkebæk, N H, Hartmann-Petersen, R, Lindorff-Larsen, K, Højland, A T, Petersen, M B & Tranebjærg, L 2020, ' Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome ', European Journal of Medical Genetics, vol. 63, no. 3, 103733, pp. 103733 . https://doi.org/10.1016/j.ejmg.2019.103733
Biallelic variants in HARS2 have been associated with Perrault syndrome, characterized by sensorineural hearing impairment and premature ovarian insufficiency. Here we report three novel families, compound heterozygous for missense variants in HARS2