The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

<h3>Background</h3> Submicroscopic deletions in 14q12 spanning <i>FOXG1</i> or intragenic mutations have been reported in patients with a developmental disorder described as a congenital variant of Rett syndrome. This study aimed to further characterise and delineate the phen...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Fanny Kortüm, Soma Das, M. Flindt, Deborah J. Morris‐Rosendahl, Iliyana Stefanova, Amy Goldstein, Denise Horn, Eva Klopocki, Gerhard Kluger, Peter Martin, Anita Rauch, A. Roumer, Sulagna C. Saitta, Laurence E. Walsh, Dagmar Wieczorek, Gökhan Uyanık, Kerstin Kutsche, William B. Dobyns
Aineistotyyppi: Artigo
Kieli:englanti
Julkaistu: 2011
Linkit:https://doi.org/10.1136/jmg.2010.087528
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Internet

https://doi.org/10.1136/jmg.2010.087528

Samankaltaisia teoksia