Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report

BACKGROUND: Laron syndrome (LS) is an autosomal recessive hereditary condition affecting only 1/1000000 births. The cause is associated with mutations in the growth hormone (GH) receptor (GHR), leading to GH insensitivity. LS patients typically present with severe growth retardation, obesity, and ab...

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Bibliographische Detailangaben
Veröffentlicht in:World J Clin Cases
Hauptverfasser: Neumann, Adina, Alcántara-Ortigoza, Miguel Ángel, González-del Ángel, Ariadna, Camargo-Diaz, Felipe, López-Bayghen, Esther
Format: Artigo
Sprache:Inglês
Veröffentlicht: Baishideng Publishing Group Inc 2019
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6906563/
https://ncbi.nlm.nih.gov/pubmed/31832405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12998/wjcc.v7.i23.4029
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