FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

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Emerging Monogenic Complex Hyperkinetic Disorders.A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.

P2860

Q44707117-2B909B18-5E71-4E29-AD03-03D94B9F76A0 Q50055846-F658EF00-3C81-40EE-A7C6-2DE3BAC101C4

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FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

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FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

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FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

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FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

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P1476

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants

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P2093

Ali Fatemi

http://www.w3.org/2001/XMLSchema#string

Angelika Eger

http://www.w3.org/2001/XMLSchema#string

Angelika Rieß

http://www.w3.org/2001/XMLSchema#string

Barbara Zoll

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Birgit Zirn

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Carolina Courage

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Dagmar Huhle

http://www.w3.org/2001/XMLSchema#string

Diana Mitter

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Dörthe Malzahn

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Elizabeth Conover

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P2860

de Lange syndrome: a clinical review of 310 individuals

FOXG1 is responsible for the congenital variant of Rett syndrome

The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q

A FOXG1 mutation in a boy with congenital variant of Rett syndrome.

Dual role of brain factor-1 in regulating growth and patterning of the cerebral hemispheres.

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

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

P2888

gim.2017.75

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98-108

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scholarly article

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10.1038/GIM.2017.75

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English

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P478

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Katherine L Helbig

Rami Abou Jamra

Marc Kaulisch

P577

2017-06-29T00:00:00Z

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P698

28661489

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FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

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P2860

P2860

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

description

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type

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P1433

P1476

P2093

P2860

P2888

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P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

P698