When Rett syndrome is due to genes other than MECP2.

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When Rett syndrome is due to genes other than MECP2.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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2018年學術文章

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When Rett syndrome is due to genes other than MECP2.

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When Rett syndrome is due to genes other than MECP2.

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When Rett syndrome is due to genes other than MECP2.

@en

When Rett syndrome is due to genes other than MECP2.

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When Rett syndrome is due to genes other than MECP2.

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When Rett syndrome is due to genes other than MECP2.

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P1476

When Rett syndrome is due to genes other than MECP2.

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P2093

Alan K Percy

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

Fran Annese

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Hannah Warren

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Jane Lane

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Jeffrey L Neul

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Steven A Skinner

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P2860

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Rett syndrome: revised diagnostic criteria and nomenclature

NTNG1 mutations are a rare cause of Rett syndrome

FOXG1 is responsible for the congenital variant of Rett syndrome

Key clinical features to identify girls with CDKL5 mutations

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

Developmental delay in Rett syndrome: data from the natural history study.

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

P304

49-53

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P31

scholarly article

case report

P356

10.3233/TRD-180021

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P433

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

P478

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P577

2018-04-13T00:00:00Z

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P698

29682453

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P932

5900556

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