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Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients.

Clinical dysmorphology - 1 Apr 2022

Ríos-González Blanca E, Rodríguez-Ortiz Jessica F, Castro-Martínez Anna G, Magaña-Torres María T, Barros-Núñez Patricio

Abstract excerpt

This study intends to describe for the first time a cohort of Mexican patients with Costello syndrome. The five exons of the HRAS gene were amplified in DNA samples from 13 patients with a clinical suspicion of Costello syndrome. PCR products were sequenced using the Ready Reaction Big Dye Terminator v.3.0 Kit and an ABI PRISM 310 sequencer. Only five patients (38%) showed causal variant in codon 12 of the HRAS...

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Identifiers

PMID: 34845155
DOI: 10.1097/MCD.0000000000000405

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