Collins, F A

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