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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Autor: Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, Van Spaendonk, Rosalina M. L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenco, Charles Marques, Bonkowsky, Joshua L., Catsman-Berrevoets, Coriene, Pinto, Pedro S., Tirupathi, Sandya, Strømme, Petter, De Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S., Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice M., Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M., Innes, A. Micheil, Kauffman, Marcelo, Kirwin, Susan M., Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I., Moutton, Sebastien, Murphy, Raymond P. J., Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özklnay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R., Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K., Stevens, CA, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, Van De Warrenburg, Bart P., Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, Van Der Knaap, Marjo S., Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I., Bernard, Genevieve

Publikováno v: Pelletier, Félixe Perrier, Stefanie Cayami, Ferdy K. Mirchi, Amytice Saikali, Stephan Tran, Luan T. Ulrick, Nicole Guerrero, Kether Rampakakis, Emmanouil Van Spaendonk, Rosalina M. L. Naidu, Sakkubai Pohl, Daniela Gibson, William T. Demos, Michelle Goizet, Cyril Tejera-Martin, Ingrid Potic, Ana Fogel, Brent Brais, Bernard Sylvain, Michel Sébire, Guillaume Lourenco, Charles Marques Bonkowsky, Joshua L. Catsman-Berrevoets, Coriene Pinto, Pedro S. Tirupathi, Sandya Strømme, Petter De Grauw, Ton Gieruszczak-Bialek, Dorota Krägeloh-Mann, Ingeborg Mierzewska, Hanna Philippi, Heike Rankin, Julia Atik, Tahir Banwell, Brenda Benko, William S. Blaschek, Astrid Bley, Annette Boltshauser, Eugen Bratkovic, Drago Brozova, Klara Cimas, Icíar Clough, Christopher Corenblum, Bernard Dinopoulos, Argirios Dolan, Gail Faletra, Flavio Fernandez, Raymond Fletcher, Janice M. Garcia Garcia, Maria Eugenia Gasparini, Paolo Gburek-Augustat, Janina Gonzalez Moron, Dolores Hamati, Aline Harting, Inga Hertzberg, Christoph Hill, Alan Hobson, Grace M. Innes, A. Micheil Kauffman, Marcelo Kirwin, Susan M. Kluger, Gerhard Kolditz, Petra Kotzaeridou, Urania La Piana, Roberta Liston, Eriskay McClintock, William McEntagart, Meriel McKenzie, Fiona Melançon, Serge Misbahuddin, Anjum Suri, Mohnish Monton, Fernando I. Moutton, Sebastien Murphy, Raymond P. J. Nickel, Miriam Onay, Hüseyin Orcesi, Simona Özklnay, Ferda Patzer, Steffi Pedro, Helio Pekic, Sandra Pineda Marfa, Mercedes Pizzino, Amy Plecko, Barbara Poll-The, Bwee Tien Popovic, Vera Rating, Dietz Rioux, Marie-France Rodriguez Espinosa, Norberto Ronan, Anne Ostergaard, John R. Rossignol, Elsa Sanchez-Carpintero, Rocio Schossig, Anna Senbil, Nesrin Sønderberg Roos, Laura K. Stevens, CA Synofzik, Matthis Sztriha, László Tibussek, Daniel Timmann, Dagmar Tonduti, Davide Van De Warrenburg, Bart P. Vázquez-López, Maria Venkateswaran, Sunita Wasling, Pontus Wassmer, Evangeline Webster, Richard Wiegand, Gert Yoon, Grace Rotteveel, Joost Schiffmann, Raphael Van Der Knaap, Marjo S. Vanderver, Adeline Martos-Moreno, Gabriel Á Polychronakos, Constantin Wolf, Nicole I. Bernard, Genevieve . Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. Jo
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Externí odkaz: http://hdl.handle.net/10852/93640
https://www.duo.uio.no/bitstream/handle/10852/93640/1/Pelletier_et_al_2021.pdf

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Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Autor: Gutierrez, Mariana, Thiffault, Isabelle, Guerrero, Kether, Martos-Moreno, Gabriel Á, Tran, Luan T, Benko, William, van der Knaap, Marjo S, van Spaendonk, Rosalina M L, Wolf, Nicole I, Bernard, Geneviève

Publikováno v: Orphanet Journal of Rare Diseases, 10:69. BioMed Central
Gutierrez, M, Thiffault, I, Guerrero, K, Martos-Moreno, G A, Tran, L T, Benko, W, Knaap, M, van Spaendonk, R M L, Wolf, N I & Bernard, G 2015, ' Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy ', Orphanet Journal of Rare Diseases, vol. 10, 69 . https://doi.org/10.1186/s13023-015-0279-9
Gutierrez, M, Thiffault, I, Guerrero, K, Martos-Moreno, G A, Tran, L T, Benko, W, Knaap, M, van Spaendonk, R M L, Wolf, N I & Bernard, G 2015, ' Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy ', Orphanet journal of rare diseases, vol. 10, 69 . https://doi.org/10.1186/s13023-015-0279-9
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 10. BioMed Central
Orphanet journal of rare diseases, 10:69. BioMed Central
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

POLR3-related (or 4H) leukodystrophy is an autosomal recessive disorder caused by mutations in POLR3A or POLR3B and is characterized by neurological and non-neurological features. In a small proportion of patients, no mutation in either gene or only

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f4a882163ede02c11153c1bcb2f2c19f
https://research.vumc.nl/en/publications/d79a3923-45df-4063-8fda-aecd9e7aaf78

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