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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Detalhes bibliográficos
Publicado no:Ital J Pediatr
Main Authors: Moia, Stefania, Tessaris, Daniele, Einaudi, Silvia, de Sanctis, Luisa, Bona, Gianni, Bellone, Simonetta, Prodam, Flavia
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Case Report
Acesso em linha: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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