Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report
Abstract Background Mutations localized in the Growth Hormone Receptor (GHR) gene are often associated with the pathogenesis of Laron Syndrome, an autosomal recessive hereditary disorder characterized by severe growth retardation. Biochemically, patients present normal to high circulating GH levels,...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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BMC,
2017-10-01T00:00:00Z.
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