Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic.

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Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic.

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http://www.wikidata.org/entity/Q36988152

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2007 nî lūn-bûn

@nan

2007年の論文

@ja

2007年論文

@yue

2007年論文

@zh-hant

2007年論文

@zh-hk

2007年論文

@zh-mo

2007年論文

@zh-tw

2007年论文

@wuu

2007年论文

@zh

2007年论文

@zh-cn

name

Review of cases presenting wit ...... a paediatric cataract clinic.

@en

type

Item

label

Review of cases presenting wit ...... a paediatric cataract clinic.

@en

prefLabel

Review of cases presenting wit ...... a paediatric cataract clinic.

@en

P1476

Review of cases presenting wit ...... a paediatric cataract clinic.

@en

P2093

Goyal R

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Russell-Eggitt I

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Thompson D

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Timms C

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Wilson LC

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P2860

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Cockayne syndrome: review of 140 cases.

Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.

Hallermann-Streiff syndrome: a review.

The many faces of Cockayne syndrome.

Micro syndrome in Muslim Pakistan children.

P2888

sj.eye.6702958

P304

273-281

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scholarly article

P356

10.1038/SJ.EYE.6702958

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P478

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2007-11-02T00:00:00Z

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5870112

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P6179

1040225194

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P698

17975563

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P921

microcephaly

birth defect