Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
<p>Abstract</p> <p>Background</p> <p>A partial duplication of the distal long arm of chromosome 5 (5q35-- > qter) is known to be associated with a distinct phenotype referred to as Hunter-McAlpine syndrome. Clinical spectrum of this disorder mainly consists of mental...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2013-01-01T00:00:00Z.
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