Questionable pathogenicity of FOXG1 duplication.

Questionable pathogenicity of FOXG1 duplication.

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http://www.wikidata.org/entity/Q43177580
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.Do regulatory regions matter in FOXG1 duplications?Reply to Amor et al.An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.Regulatory variants of FOXG1 in the context of its topological domain organisation.Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
P2860

Questionable pathogenicity of FOXG1 duplication.

Item
http://www.wikidata.org/entity/Q43177580
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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name
Questionable pathogenicity of FOXG1 duplication.
@en
Questionable pathogenicity of FOXG1 duplication.
@nl
type
label
Questionable pathogenicity of FOXG1 duplication.
@en
Questionable pathogenicity of FOXG1 duplication.
@nl
prefLabel
Questionable pathogenicity of FOXG1 duplication.
@en
Questionable pathogenicity of FOXG1 duplication.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698
P932
P356
P1433
P1476
Questionable pathogenicity of FOXG1 duplication
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698
P932