Abstract
Most report of Weaver syndrome have been sporadic cases and the genetic basis of the syndrome is uncertain. This report of an affected father and daughter provides evidence for autosomal dominant inheritance.
MeSH terms
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Abnormalities, Multiple / genetics
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Adult
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Bone Development / genetics
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Child, Preschool
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Chromosome Aberrations / genetics
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Chromosome Disorders
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Family Health
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Female
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Genes, Dominant / genetics*
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Genetic Diseases, Inborn / genetics*
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Genetic Diseases, Inborn / pathology
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Growth Disorders / genetics*
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Growth Disorders / pathology
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Growth Disorders / physiopathology
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Hand Deformities, Congenital / genetics
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Humans
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Male