Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. [electronic resource]
Producer: 20120221Description: 675-81 p. digitalISSN:- 1537-6605
- Abnormalities, Multiple -- genetics
- Adult
- Animals
- Blepharophimosis -- genetics
- Child
- Chromatin -- metabolism
- Chromosomes, Human, Pair 10 -- genetics
- Codon, Nonsense -- genetics
- Congenital Hypothyroidism -- genetics
- Exome -- genetics
- Facies
- Female
- Gene Expression Regulation, Developmental
- Heart Defects, Congenital
- Histone Acetyltransferases -- deficiency
- Humans
- INDEL Mutation -- genetics
- Intellectual Disability -- genetics
- Joint Instability
- Male
- Metabolism, Inborn Errors -- genetics
- Mice
- Mice, Transgenic
- Microarray Analysis
- Polymorphism, Single Nucleotide -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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