A Novel Intragenic Duplication in the

Autor: Cristina, Lucia-Campos, Irene, Valenzuela, Ana, Latorre-Pellicer, David, Ros-Pardo, Marta, Gil-Salvador, María, Arnedo, Beatriz, Puisac, Neus, Castells, Alberto, Plaja, Anna, Tenes, Ivon, Cuscó, Laura, Trujillano, Feliciano J, Ramos, Eduardo F, Tizzano, Paulino, Gómez-Puertas, Juan, Pié

Publikováno v: Genes. 13(8)

Cornelia de Lange syndrome (CdLS) is a multisystemic genetic disorder characterized by distinctive facial features, growth retardation, and intellectual disability, as well as various systemic conditions. It is caused by genetic variants in genes rel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::645e75c38f6282bc0416118aeb62aff2
https://pubmed.ncbi.nlm.nih.gov/36011323

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Autor: Maria B. Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P. Bhatia, Tatjana Bierhals, Christian M. Boßelmann, Julien Buratti, Bert Callewaert, Berten Ceulemans, Perrine Charles, Matthias De Wachter, Mohammadreza Dehghani, Erika D'haenens, Martine Doco‐Fenzy, Michaela Geßner, Cyrielle Gobert, Ulviyya Guliyeva, Tobias B. Haack, Trine B. Hammer, Tilman Heinrich, Maja Hempel, Theresia Herget, Ute Hoffmann, Judit Horvath, Henry Houlden, Boris Keren, Christina Kresge, Candy Kumps, Damien Lederer, Alban Lermine, Francesca Magrinelli, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Mahdiyeh Moudi, Amelie J. Müller, Anna J. Oostra, Beth A. Pletcher, David Ros‐Pardo, Shanika Samarasekera, Marco Tartaglia, Kristof Van Schil, Julie Vogt, Evangeline Wassmer, Juliane Winkelmann, Maha S. Zaki, Michael Zech, Holger Lerche, Francesca Clementina Radio, Paulino Gomez‐Puertas, Rikke S. Møller, Zeynep Tümer

Publikováno v: Clinical genetics
CLINICAL GENETICS
Christensen, M B, Levy, A M, Mohammadi, N A, Niceta, M, Kaiyrzhanov, R, Dentici, M L, Al Alam, C, Alesi, V, Benoit, V, Bhatia, K P, Bierhals, T, Boßelmann, C M, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, T B, Hammer, T B, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, M Y, Moudi, M, Müller, A J, Oostra, A J, Pletcher, B A, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, M S, Zech, M, Lerche, H, Radio, F C, Gomez-Puertas, P, Møller, R S & Tümer, Z 2022, ' Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder ', Clinical Genetics, vol. 102, no. 2, pp. 98-109 . https://doi.org/10.1111/cge.14165

Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b95d713d1109bb0b4e3b02c70735ab1
https://hdl.handle.net/10067/1891320151162165141