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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Detalles Bibliográficos
Autores principales: Moia, Stefania, Tessaris, Daniele, Einaudi, Silvia, de Sanctis, Luisa, Bona, Gianni, Bellone, Simonetta, Prodam, Flavia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639735/
https://www.ncbi.nlm.nih.gov/pubmed/29025428
http://dx.doi.org/10.1186/s13052-017-0411-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639735/
https://www.ncbi.nlm.nih.gov/pubmed/29025428
http://dx.doi.org/10.1186/s13052-017-0411-7

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