Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. [electronic resource]
Producer: 20120619Description: 282-9 p. digitalISSN:- 1537-6605
- Abnormalities, Multiple -- enzymology
- Animals
- Blepharophimosis -- enzymology
- Blepharoptosis -- enzymology
- Bone Diseases, Developmental -- enzymology
- Cerebellum -- abnormalities
- Epigenomics -- methods
- Exome
- Female
- Heart Defects, Congenital -- enzymology
- Heterozygote
- Histone Acetyltransferases -- genetics
- Humans
- Intellectual Disability -- enzymology
- Male
- Mice
- Mice, Inbred C57BL
- Musculoskeletal Abnormalities -- enzymology
- Mutation
- Phenotype
- Rubinstein-Taybi Syndrome -- enzymology
- Sequence Analysis, DNA -- methods
- Urogenital Abnormalities -- enzymology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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