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of 3
pro vyhledávání: '"John Karl de Dios"'
Autor:
Camille Kumps, Heather Paterson, Benoît Funalot, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Robin Clark, Elliott H. Sherr, Marion Gérard, Jasmine L.F. Fung, Emanuela Argilli, Megan E. Rech, Antonio Vitobello, Christian Netzer, Christian P. Schaaf, Coranne D. Aarts-Tesselaar, Angela Abicht, Lennart Lessmeier, Brian H.Y. Chung, Anne-Sophie Denommé-Pichon, Jason Carmichael, Frédéric Tran Mau-Them, Andrea Superti-Furga, Marion Aubert Mucca, Marcus Cy Chan, Nicolas Chassaing, Christine Coubes, Anne H. O’Donnell-Luria, Lynn Pais, Colleen Kennedy, Daphné Lehalle, Maries Joseph, Kathleen A. Leppig, Florian Erger, John Karl de Dios, Lance H. Rodan, Marjolaine Willems, Subhadra Ramanathan, Clara Velmans, Eleina M. England
Publikováno v:
Journal of Medical Genetics, 59(7), 697-705. BMJ Publishing Group
Journal of medical genetics, vol 59, iss 7
J Med Genet
Journal of medical genetics, vol 59, iss 7
J Med Genet
BackgroundO’Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, mostly truncating variants in KMT2E. It was first described by O’Donnell-Luria et al in 2019 in a cohort of 38 patients.
Autor:
Fowzan S. Alkuraya, Eric J. Mallack, Ingrid M. Wentzensen, John Karl de Dios, Subhadra Ramanathan, Robin D. Clark, Alpa Sidhu, Mais Hashem, Valérie Cormier-Daire, Maya Chopra, Danita Velasco, Shenela Lakhani, Lois J. Starr, Emily Singh, Didier Lacombe, Karin Panzer, Chloe Whitton, Elizabeth E. Palmer, Vincent Michaud, Lance H. Rodan, Christoffer Nellåker
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2021, 100 (4), pp.468-477. ⟨10.1111/cge.14022⟩
Clinical Genetics, Wiley, 2021, 100 (4), pp.468-477. ⟨10.1111/cge.14022⟩
We describe the clinical features of nine unrelated individuals with rare de novo missense or in-frame deletions/duplications within the « HX motif » of exon 7 of ATN1. We previously proposed that individuals with such variants should be considered
Autor:
null Elizabeth E. Palmer, null Chloe Whitton, null Mais O. Hashem, null Robin D. Clark, null Subhadra Ramanathan, null Lois J. Starr, null Danita Velasco, null John Karl De Dios, null Emily Singh, null Valerie Cormier‐Daire, null Maya Chopra, null Lance H. Rodan, null Christoffer Nellaker, null Shenela Lakhani, null Eric J. Mallack, null Karin Panzer, null Alpa Sidhu, null Ingrid M. Wentzensen, null Didier Lacombe, null Vincent Michaud, null Fowzan S. Alkuraya
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af27e6355f3ad15f2dffd84397e8133c
https://doi.org/10.1111/cge.14022/v2/response1
https://doi.org/10.1111/cge.14022/v2/response1