(Q51920317)

17 April 2018

title

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. (English)

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17 April 2018

Rubinstein-Taybi syndrome

main subject

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Oliver Bartsch

1

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17 April 2018

Janette Labonté

2

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17 April 2018

Beate Albrecht

3

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17 April 2018

Dagmar Wieczorek

4

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17 April 2018

Stanislav Lechno

5

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17 April 2018

Ulrich Zechner

6

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17 April 2018

Thomas Haaf

7

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17 April 2018

language of work or name

English

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publication date

1 January 2010

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17 April 2018

American Journal of Medical Genetics

published in

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17 April 2018

volume

152A

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17 April 2018

issue

1

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17 April 2018

page(s)

181-184

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17 April 2018

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33153

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33153

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33153

CBP and p300: HATs for different occasions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33153

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33153

Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33153

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.33153

1 reference

17 April 2018

1 reference

17 April 2018