Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

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Eosinophilic Esophagitis in Children.Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.A novel MED12 mutation: Evidence for a fourth phenotype.

P2860

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P2860

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

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Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

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Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

@en

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

@nl

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Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

@en

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

@nl

P1476

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

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P2093

Janelle Fox

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

Jordan Brown

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

Katherine G Langley

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

Michael J Friez

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

Michael Lyons

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

Richard J Gerber

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

Samantha A Schrier Vergano

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P2860

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

Two additional cases of the Ohdo blepharophimosis syndrome.

Mutations in MED12 cause X-linked Ohdo syndrome

PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations.

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.

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum ofMED12mutations

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome

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3180-3185

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scholarly article

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10.1002/AJMG.A.37354

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English

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167A

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2015-09-04T00:00:00Z

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26338144

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Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

about

P2860

P2860

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

description

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type

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P1433

P1476

P2093

P2860

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P698