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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: 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
Format: Artigo
Jezik:engleski
Izdano: 2011
Online pristup:https://doi.org/10.1136/jmg.2010.087528
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Internet

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

Slični predmeti