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Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (Genetics in Medicine, (2019), 21, 4, (850-860), 10.1038/s41436-018-0259-2)

Autor: Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L., McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J., Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia A. L., Nibbeling, Esther, Dingemans, Alexander J. M., Douine, Emilie D., Nelson, Stanley F., Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A., Newbury-Ecob, Ruth

Publikováno v: Kennedy, J, Goudie, D, Blair, E, Chandler, K, Joss, S, McKay, V, Green, A, Armstrong, R, Lees, M, Kamien, B, Hopper, B, Tan, T Y, Yap, P, Stark, Z, Okamoto, N, Miyake, N, Matsumoto, N, Macnamara, E, Murphy, J L, McCormick, E, Hakonarson, H, Falk, M J, Li, D, Blackburn, P, Klee, E, Babovic-Vuksanovic, D, Schelley, S, Hudgins, L, Kant, S, Isidor, B, Cogne, B, Bradbury, K, Williams, M, Patel, C, Heussler, H, Duff-Farrier, C, Lakeman, P, Scurr, I, Kini, U, Elting, M, Reijnders, M, Schuurs-Hoeijmakers, J, Wafik, M, Blomhoff, A, Ruivenkamp, C A L, Nibbeling, E, Dingemans, A J M, Douine, E D, Nelson, S F, Hempel, M, Bierhals, T, Lessel, D, The DDD study, Johannsen, J, Arboleda, V A & Newbury-Ecob, R 2020, ' Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (Genetics in Medicine, (2019), 21, 4, (850-860), 10.1038/s41436-018-0259-2) ', Genetics in Medicine, vol. 22, no. 11, pp. 1920 . https://doi.org/10.1038/s41436-020-00944-7

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10172::6719d57da365c0aa00af023efd977d2c
https://research.vumc.nl/en/publications/fa0da8e1-b08a-4d21-abfd-0966d2941410

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Autor: Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia AL, Nibbeling, Esther, Dingemans, Alexander JM, Douine, Emilie D, Nelson, Stanley F, DDD Study, Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A, Newbury-Ecob, Ruth

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 4

PurposePathogenic variantsin KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::6eecb8e146338cfb597c0809e64ec872
https://escholarship.org/uc/item/79s761gb