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...

Disgrifiad llawn

Wedi'i Gadw mewn:

Manylion Llyfryddiaeth
Prif Awduron:	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
Fformat:	Artigo
Iaith:	Saesneg
Cyhoeddwyd:	2011
Mynediad Ar-lein:	https://doi.org/10.1136/jmg.2010.087528
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
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The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter
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The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter
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Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly
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Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum
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Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum
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Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies
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Surgical Treatment of Oromandibular Limb Hypogenesis Syndrome Type I A by Distraction Osteogenesis Combined With Orthodontic Rehabilitation
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Questionable pathogenicity of FOXG1 duplication
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FOXG1 Dose in Brain Development
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FOXG1 Dose in Brain Development
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The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome
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The Microcephaly-Capillary Malformation Syndrome
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Dysregulation of FOXG1 by ring chromosome 14
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The Role of FoxG1 in the Inner Ear
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