A new association between CDK5RAP2 microcephaly and congenital cataracts.

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A new association between CDK5RAP2 microcephaly and congenital cataracts.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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A new association between CDK5RAP2 microcephaly and congenital cataracts.

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A new association between CDK5RAP2 microcephaly and congenital cataracts.

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A new association between CDK5RAP2 microcephaly and congenital cataracts.

@en

A new association between CDK5RAP2 microcephaly and congenital cataracts.

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A new association between CDK5RAP2 microcephaly and congenital cataracts.

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A new association between CDK5RAP2 microcephaly and congenital cataracts.

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P1476

A new association between CDK5RAP2 microcephaly and congenital cataracts.

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P2093

Ibtihal Alhufayti

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

Lamia Alsubaie

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Majid Alfadhel

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Mohammed Alowain

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Namik Kaya

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Rawan Almass

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Wafaa Eyaid

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P2860

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Mutations in CDK5RAP2 cause Seckel syndrome

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.

Investigating microcephaly.

Autosomal dominant microcephaly.

P304

165-170

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P31

scholarly article

P356

10.1111/AHG.12232

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P407

English

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P478

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P50

Ahmed Alfares

P577

2017-12-22T00:00:00Z

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P698

29271474

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P921

microcephaly