Article
Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.
American journal of medical genetics. Part A - 1 Apr 2021
Perrone Eduardo, Perez Ana Beatriz Alvarez, D'Almeida Vânia, de Mello Claudia Berlim, Jacobina Marcela Amaral Avelino, Loureiro Rafael Maffei, Burlin Stênio, Migliavacca Michele, do Amaral Virmond Luiza, Graziadio Carla, Pedroso José Luiz, Mendes Elaine Lustosa, Gomy Israel, de Macena Sobreira Nara Lygia
Abstract excerpt
We aim to characterize patients with Gomez-López-Hernández syndrome (GLHS) clinically and to investigate them molecularly. A clinical protocol, including a morphological and neuropsychological assessment, was applied to 13 patients with GLHS. Single-nucleotide polymorphism (SNP) array and whole-exome sequencing were undertaken; magnetic resonance imaging was performed in 12 patients, including high-resolution,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.