(Q52010224)

19 April 2018

title

Diagnosing Sotos syndrome in the setting of global developmental delay and macrocephaly. (English)

1 reference

19 April 2018

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Myriam Srour

1

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19 April 2018

Barbara Mazer

series ordinal

2

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19 April 2018

Michael I Shevell

series ordinal

3

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19 April 2018

publication date

1 April 2006

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19 April 2018

Journal of Child Neurology

published in

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19 April 2018

volume

21

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19 April 2018

issue

4

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19 April 2018

page(s)

287-290

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19 April 2018

CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER.

cites work

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

Sotos syndrome: a study of the diagnostic criteria and natural history

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

Haploinsufficiency of NSD1 causes Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

The syndromes of Sotos and Weaver: reports and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

NSD1 is essential for early post-implantation development and has a catalytically active SET domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

Clinical features of NSD1-positive Sotos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

Sacrococcygeal teratoma in two cases of Sotos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

Lymphoproliferative disorders in Sotos syndrome: observation of two cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738060210042201

10.1177/08830738060210042201

21 January 2018

Identifiers

DOI

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19 April 2018

1 reference

19 April 2018