(Q58193260)

1

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Carmelo Salpietro

2

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Naseebullah Kakar

3

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Alida C. Knegt

4

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Éva Oláh

5

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Guntram Borck

American Journal of Medical Genetics

7

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language of work or name

English

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publication date

22 February 2013

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published in

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volume

161

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issue

4

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page(s)

884-888

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cites work

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35848

21 January 2018

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Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35848

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35848

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35848

Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35848

The transcriptional coactivator Querkopf controls adult neurogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35848

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35848

Congenital hypothyroidism in Young-Simpson syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35848

Querkopf, a histone acetyltransferase, is essential for embryonic neurogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35848

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

21 January 2018

1 reference

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