Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

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Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

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2017 nî lūn-bûn

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2017年学术文章

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Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

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Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

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Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

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Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

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Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

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P2093

Anna-Kaisa Anttonen

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P2860

Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

CCDC88A mutations cause PEHO-like syndrome in humans and mouse

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome.

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e50

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scholarly article

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10.1093/BRAIN/AWX157

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English

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P478

140

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Anna-Elina Lehesjoki

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2017-08-01T00:00:00Z

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28899016

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