Código QR (código de barras bidimensional)

Clinical and genetic characteristics associated with dual-positive gene variations

ObjectiveTo analyze the clinical and genetic characteristics associated with dual-positive gene variations.MethodsA retrospective analysis was conducted on two children diagnosed with dual-positive gene variations.ResultsPatient 1, a 7-year-old girl, presented with a low hairline, microcephaly, high...

ver descrição completa

Na minha lista:
Principais autores: Li Wang, Jinghe Shi, Xiaojing Yin, Pingyun Qiao, Fuwei Li, Weixing Feng
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2025-07-01
coleção:Frontiers in Neuroscience
Assuntos:
SMC3 gene
MECP2 gene
PMP22 gene
clinical characteristics
dual-positive gene variations
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fnins.2025.1516589/full
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registros relacionados