Article
Angelman syndrome assessed by neurological and molecular cytogenetic investigations.
Pediatric neurology - 1 Jan 1997
Hou J W, Wang P J, Wang T R
Abstract excerpt
Angelman syndrome (AS) is characterized by severe psychomotor retardation, speech impairment, happy disposition with bursts of laughter, ataxia, convulsions, and some distinct physical anomalies. Correct diagnosis of AS is important because of its clinical implications, and once the disease is confirmed, familial genetic counseling becomes crucial. We evaluated 22 patients with a putative diagnosis of AS by both...
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