An Indian boy with a novel leukodystrophy: 4H syndrome.

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Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism (4H) Syndrome With Vertebral Anomalies: A Novel Association.A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

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P2860

An Indian boy with a novel leukodystrophy: 4H syndrome.

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http://www.wikidata.org/entity/Q43977690

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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An Indian boy with a novel leukodystrophy: 4H syndrome.

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An Indian boy with a novel leukodystrophy: 4H syndrome.

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label

An Indian boy with a novel leukodystrophy: 4H syndrome.

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An Indian boy with a novel leukodystrophy: 4H syndrome.

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An Indian boy with a novel leukodystrophy: 4H syndrome.

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An Indian boy with a novel leukodystrophy: 4H syndrome.

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P1476

An Indian boy with a novel leukodystrophy: 4H syndrome.

@en

P2093

Devi Dayal

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Jitendra Kumar Sahu

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N Khandelwal

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Prashant Jauhari

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Pratibha Singhi

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P2860

Neuroimaging in leukodystrophies.

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

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

New case of 4H syndrome and a review of the literature.

Cerebellar ataxia and ectodermal dysplasia in brothers.

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

4H syndrome: a rare cause of leukodystrophy.

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.

A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract.

P304

135-138

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scholarly article

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10.1177/0883073812470737

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2013-01-09T00:00:00Z

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23307887

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An Indian boy with a novel leukodystrophy: 4H syndrome.

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P2860

P2860

An Indian boy with a novel leukodystrophy: 4H syndrome.

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698