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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Detaylı Bibliyografya
Yayımlandı:Ital J Pediatr
Asıl Yazarlar: Moia, Stefania, Tessaris, Daniele, Einaudi, Silvia, de Sanctis, Luisa, Bona, Gianni, Bellone, Simonetta, Prodam, Flavia
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2017
Konular:
Case Report
Online Erişim: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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