Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report

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, in pres...

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Détails bibliographiques
Publié dans:Ital J Pediatr
Auteurs principaux: Moia, Stefania, Tessaris, Daniele, Einaudi, Silvia, de Sanctis, Luisa, Bona, Gianni, Bellone, Simonetta, Prodam, Flavia
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2017
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5639735/
https://ncbi.nlm.nih.gov/pubmed/29025428
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-017-0411-7
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