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...

Descripción completa

Detalles Bibliográficos
Autores principales: Neumann, Adina, Alcántara-Ortigoza, Miguel Ángel, González-del Ángel, Ariadna, Camargo-Diaz, Felipe, López-Bayghen, Esther
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906563/
https://www.ncbi.nlm.nih.gov/pubmed/31832405
http://dx.doi.org/10.12998/wjcc.v7.i23.4029

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906563/
https://www.ncbi.nlm.nih.gov/pubmed/31832405
http://dx.doi.org/10.12998/wjcc.v7.i23.4029

Ejemplares similares