Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome

• 作 者: Adina Neumann Miguel Angel Alc
• 机 构: LaboratoriodeInvestigacionyDiagnosticoMolecular,InstitutoNacionaldePediatria,LaboratoriodeBiologiaMo
• 出 处: 世界临床病例杂志
• 发表日期: 2019年23期
• 关键词: GROWTH HORMONE INSENSITIVITY GROWTH HORMONE receptor mutations Intragenic DELETI
• 基金项目: Supported by Conacyt,NO.231793.

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