Human genetics: dissecting Williams syndrome.
Molecular analysis of a small hemizygous deletion in a patient with partial Williams syndrome suggests that loss of the LIM-Kinase1 gene may be responsible for the impaired visuospatial constructive cognition characteristic of the syndrome.
Monaco
A P
AP
Wellcome Trust Centre for Human Genetics, University of Oxford, UK.
D000818:Animals; D002897:Chromosomes, Human, Pair 7; D004549:Elastin / Q000235:genetics; D005826:Genetics, Medical; D006801:Humans; D054461:Lim Kinases; D011494:Protein Kinases / Q000235:genetics*; D018980:Williams Syndrome / Q000235:genetics*; D016335:Zinc Fingers
D004549:Elastin; D011494:Protein Kinases; C515892:LIMK1 protein, human; D054461:Lim Kinases