A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

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A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

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2018 nî lūn-bûn

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2018年学术文章

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A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

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A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

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A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

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A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

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A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

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A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

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P1476

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

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P2093

Akbar Mohammad

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C M Sreedhar

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Kunal Tewari

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Madhulika Kabra

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Neerja Gupta

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Ritu Mehta

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Sheffali Gulati

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Vishal V Tewari

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P2860

Tissue-specific differences in human transfer RNA expression

Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

More than hypomyelination in Pol-III disorder.

Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.

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126

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scholarly article

case report

P356

10.1186/S12887-018-1108-9

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2018-04-04T00:00:00Z

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1103128439

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29618326

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