The genetic basis of DOORS syndrome: an exome-sequencing study

Autor: Campeau, Philippe M, Kasperaviciute, Dalia, Lu, James T, Burrage, Lindsay C, Kim, Choel, Hori, Mutsuki, Powell, Berkley R, Stewart, Fiona, Félix, Têmis Maria, van den Ende, Jenneke, Wisniewska, Marzena, Kayserili, Hülya, Rump, Patrick, Nampoothiri, Sheela, Aftimos, Salim, Mey, Antje, Nair, Lal D V, Begleiter, Michael L, De Bie, Isabelle, Meenakshi, Girish, Murray, Mitzi L, Repetto, Gabriela M, Golabi, Mahin, Blair, Edward, Male, Alison, Giuliano, Fabienne, Kariminejad, Ariana, Newman, William G, Bhaskar, Sanjeev S, Dickerson, Jonathan E, Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C, Wieczorek, Dagmar, Tostevin, Anna, Wiszniewska, Joanna, Cheung, Sau Wai, Hennekam, Raoul C, Gibbs, Richard A, Lee, Brendan H, Sisodiya, Sanjay M

Publikováno v: In Lancet Neurology January 2014 13(1):44-58

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

Autor: Beauregard-Lacroix, Eliane, Pacheco-Cuellar, Guillermo, Ajeawung, Norbert F., Tardif, Jessica, Dieterich, Klaus, Dabir, Tabib, Vind-Kezunovic, Dina, White, Susan M., Zadori, Denes, Castiglioni, Claudia, Tranebjærg, Lisbeth, Tørring, Pernille Mathiesen, Blair, Ed, Wisniewska, Marzena, Camurri, Maria Vittoria, van Bever, Yolande, Molidperee, Sirinart, Taylor, Juliet, Dionne-Laporte, Alexandre, Sisodiya, Sanjay M., Hennekam, Raoul C.M., Campeau, Philippe M.

Publikováno v: Beauregard-Lacroix, E, Pacheco-Cuellar, G, Ajeawung, N F, Tardif, J, Dieterich, K, Dabir, T, Vind-Kezunovic, D, White, S M, Zadori, D, Castiglioni, C, Tranebjærg, L, Tørring, P M, Blair, E, Wisniewska, M, Camurri, M V, van Bever, Y, Molidperee, S, Taylor, J, Dionne-Laporte, A, Sisodiya, S M, Hennekam, R C M & Campeau, P M 2021, ' DOORS syndrome and a recurrent truncating ATP6V1B2 variant ', Genetics in Medicine, vol. 23, pp. 149–154 . https://doi.org/10.1038/s41436-020-00950-9
Beauregard-Lacroix, E, Pacheco-Cuellar, G, Ajeawung, N F, Tardif, J, Dieterich, K, Dabir, T, Vind-Kezunovic, D, White, S M, Zadori, D, Castiglioni, C, Tranebjærg, L, Tørring, P M, Blair, E, Wisniewska, M, Camurri, M V, van Bever, Y, Molidperee, S, Taylor, J, Dionne-Laporte, A, Sisodiya, S M, Hennekam, R C M & Campeau, P M 2021, ' DOORS syndrome and a recurrent truncating ATP6V1B2 variant ', Genetics in Medicine, vol. 23, no. 1, pp. 149–154 . https://doi.org/10.1038/s41436-020-00950-9

Purpose: Biallelic variants in TBC1D24, which encodes a protein that regulates vesicular transport, are frequently identified in patients with DOORS (deafness, onychodystrophy, osteodystrophy, intellectual disability [previously referred to as mental

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8efde87c69efd59e77777b438483878e
https://curis.ku.dk/portal/da/publications/doors-syndrome-and-a-recurrenttruncating-atp6v1b2-variant(7dcbacf1-5307-4aa1-a4c9-3e0cef8f4201).html

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DOORS syndrome and a recurrent truncating ATP6V1B2variant

Autor: Beauregard-Lacroix, Eliane, Pacheco-Cuellar, Guillermo, Ajeawung, Norbert F., Tardif, Jessica, Dieterich, Klaus, Dabir, Tabib, Vind-Kezunovic, Dina, White, Susan M., Zadori, Denes, Castiglioni, Claudia, Tranebjærg, Lisbeth, Tørring, Pernille Mathiesen, Blair, Ed, Wisniewska, Marzena, Camurri, Maria Vittoria, van Bever, Yolande, Molidperee, Sirinart, Taylor, Juliet, Dionne-Laporte, Alexandre, Sisodiya, Sanjay M., Hennekam, Raoul C.M., Campeau, Philippe M.

Publikováno v: Genetics in Medicine; January 2021, Vol. 23 Issue: 1 p149-154, 6p