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BIBTEX RIS

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

2014; Springer Nature; Volume: 23; Issue: 6 Linguagem: Inglês

10.1038/ejhg.2014.165

ISSN

1476-5438

Autores

Alma Kuechler, Alexander M. Zink, Thomas Wieland, H.-J. Lüdecke, Kirsten Cremer, Leonardo Salviati, Pamela Magini, Kimia Najafi, Christiane Zweier, Johanna Christina Czeschik, Stefan Aretz, Sabine Endele, Federica Tamburrino, Claudia Pinato, Maurizio Clementi, Jasmin Gundlach, Carina Maylahn, Laura Mazzanti, Eva Wohlleber, Thomas Schwarzmayr, Roxana Kariminejad, Avner Schlessinger, Dagmar Wieczorek, Tim M. Strom, Gaia Novarino, Hartmut Engels,

Tópico(s)

Genomics and Rare Diseases

Referência(s)