Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report
Abstract Background Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described i...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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BMC,
2018-06-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |