Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes. [electronic resource]
- American journal of medical genetics Jan 1992
- 127-34 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0148-7299
10.1002/ajmg.1320420126 doi
Adolescent Blindness--genetics Chromosome Deletion Female Heterozygote Humans Intellectual Disability--genetics Male Monoamine Oxidase--deficiency Myoclonus--genetics Phenotype Stereotyped Behavior Syndrome X Chromosome