The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. [electronic resource]
Producer: 20130304Description: 1520-5 p. digitalISSN:- 1098-1004
- Abnormalities, Multiple -- enzymology
- Base Sequence
- Blepharophimosis -- enzymology
- Blepharoptosis -- enzymology
- Craniofacial Abnormalities -- enzymology
- DNA -- genetics
- Databases, Nucleic Acid
- Female
- Genetic Association Studies
- Haploinsufficiency
- Heart Defects, Congenital -- enzymology
- Histone Acetyltransferases -- chemistry
- Humans
- Intellectual Disability -- enzymology
- Kidney -- abnormalities
- Male
- Molecular Sequence Data
- Mutation
- Patella -- abnormalities
- Psychomotor Disorders -- enzymology
- Scrotum -- abnormalities
- Sequence Deletion
- Urogenital Abnormalities -- enzymology
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Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
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