(Q41920292)

14 October 2017

title

Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child (English)

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14 October 2017

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Tuong-Nam Nguyen

1

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14 October 2017

Vazken M Der Kaloustian

2

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14 October 2017

Magda Barsoum-Homsy

3

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14 October 2017

Olga Dembinska

4

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14 October 2017

Robert K Koenekoop

5

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14 October 2017

publication date

1 April 2005

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Canadian Journal of Ophthalmology

14 October 2017

published in

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14 October 2017

volume

40

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14 October 2017

issue

2

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14 October 2017

page(s)

195-199

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Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation

14 October 2017

cites work

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A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies

7 January 2021

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Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical?

7 January 2021

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Ocular manifestations of Seckel syndrome

7 January 2021

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7 January 2021

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Granulocytopenia in Cohen syndrome

7 January 2021

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MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly

7 January 2021

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Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years

7 January 2021

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Cohen syndrome: evaluation of its cardiac, endocrine and radiological features

7 January 2021

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Ophthalmologic findings in Cohen syndrome. A long-term follow-up

7 January 2021

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Cohen syndrome: essential features, natural history, and heterogeneity

7 January 2021

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Impact of intrauterine growth restriction on neurodevelopmental and growth outcomes in very low birthweight infants

7 January 2021

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Autosomal dominant microcephaly with mental retardation

7 January 2021

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Autosomal recessive microcephaly with severe psychomotor retardation

7 January 2021

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Reproducibility of ERG responses obtained with the DTL electrode

7 January 2021

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Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

7 January 2021

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Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome

7 January 2021

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An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration.

7 January 2021

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10.1016/S0008-4182(05)80034-1

7 January 2021

Identifiers

DOI

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14 October 2017

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