Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

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Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.

P2860

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Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

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http://www.wikidata.org/entity/Q53169876

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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2017年學術文章

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name

Lin-Gettig syndrome: Craniosyn ...... f the KAT6B related disorders.

@en

Lin-Gettig syndrome: Craniosyn ...... f the KAT6B related disorders.

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type

Item

label

Lin-Gettig syndrome: Craniosyn ...... f the KAT6B related disorders.

@en

Lin-Gettig syndrome: Craniosyn ...... f the KAT6B related disorders.

@nl

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Lin-Gettig syndrome: Craniosyn ...... f the KAT6B related disorders.

@en

Lin-Gettig syndrome: Craniosyn ...... f the KAT6B related disorders.

@nl

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Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders

@en

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Abhijit Dixit

http://www.w3.org/2001/XMLSchema#string

Allan M Innes

http://www.w3.org/2001/XMLSchema#string

Caitlin Goedhart

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Care for Rare Canada Consortium

http://www.w3.org/2001/XMLSchema#string

Jillian S Parboosingh

http://www.w3.org/2001/XMLSchema#string

Patrick Ferreira

http://www.w3.org/2001/XMLSchema#string

Rani A Bashir

http://www.w3.org/2001/XMLSchema#string

Shabih U Hasan

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P2860

Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation

Exome sequencing identifies the cause of a mendelian disorder

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

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

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

The Ohdo blepharophimosis syndrome: a third case.

Possible third case of Lin-Gettig syndrome.

Further delineation of the KAT6B molecular and phenotypic spectrum

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

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2596-2604

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scholarly article

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10.1002/AJMG.A.38355

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English

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173

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Ping-Yee B Au

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2017-07-11T00:00:00Z

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28696035

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P921

craniosynostosis

Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

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P2860

P2860

Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921