Publications by authors named "Nathalia T P Braga"
Genet Mol Biol
January 2020
Article Synopsis
- - Laron's syndrome (LS) is a rare genetic disorder caused by insensitivity to growth hormone due to mutations in the GH receptor gene, affecting the body's growth signaling pathways.
- - A study reported two sisters from a consanguineous family in Brazil, both showing signs typical of LS, including significantly below-average height and abnormal hormone levels.
- - A specific genetic mutation (c.1A>T in GHR exon 2) was identified in the sisters, previously unreported in Brazilian patients, and is linked to LS, alongside a summary of 21 other known Brazilian LS cases.
