(Q38188009)

30 August 2017

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). (English)

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30 August 2017

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1

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5 June 2020

Susan White

12

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5 June 2020

author name string

D Lederer

2

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5 June 2020

V Benoit

3

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5 June 2020

E Jenkins

4

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5 June 2020

E Howard

5

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5 June 2020

S Bunstone

6

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5 June 2020

B Kerr

7

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5 June 2020

S McKee

8

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5 June 2020

I C Lloyd

9

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5 June 2020

D Shears

10

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5 June 2020

H Stewart

11

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5 June 2020

R Savarirayan

13

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5 June 2020

G M S Mancini

14

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5 June 2020

D Beysen

15

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5 June 2020

R D Cohn

16

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5 June 2020

B Grisart

17

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5 June 2020

I Maystadt

18

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5 June 2020

D Donnai

19

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5 June 2020

publication date

27 March 2014

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30 August 2017

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5 June 2020

volume

87

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5 June 2020

issue

3

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5 June 2020

page(s)

252-258

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Unmasking Kabuki syndrome

5 June 2020

cites work

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

21 January 2018

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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

21 January 2018

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MLL2 mutation spectrum in 45 patients with Kabuki syndrome

21 January 2018

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Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

21 January 2018

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MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

21 January 2018

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Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

21 January 2018

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KDM6A point mutations cause Kabuki syndrome

21 January 2018

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UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development

21 January 2018

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Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth

21 January 2018

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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

21 January 2018

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Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

21 January 2018

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Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

21 January 2018

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Hyperinsulinism in developmental syndromes

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12363

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24527667%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

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