Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

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Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

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Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

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Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

@en

Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

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Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

@en

Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

@nl

P1476

Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

@en

P2093

Abdul Rezzak Hamzeh

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

Fatima Saif

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Fatma Bastaki

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Madiha Mohamed

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Mahmoud Taleb Al-Ali

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Majdi El Halik

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Nafisa Tawfiq

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Pratibha Nair

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P2860

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

WDR62 is associated with the spindle pole and is mutated in human microcephaly

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

Molecular genetics of human microcephaly.

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis.

Genetic causes of microcephaly and lessons for neuronal development.

Genomic analysis of primordial dwarfism reveals novel disease genes.

P304

2127-2132

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P31

scholarly article

review article

P356

10.1002/AJMG.A.37766

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P407

English

P433

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

P478

170

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P577

2016-05-27T00:00:00Z

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P698

27232581

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P921

microcephaly