Cargando…
A Novel de novo Mutation in EBF3 Associated With Hypotonia, Ataxia, and Delayed Development Syndrome in a Chinese Boy
OBJECTIVE: Global developmental delay has markedly high phenotypic and genetic heterogeneity, and is a great challenge for clinical diagnosis. Hypotonia, ataxia, and delayed development syndrome (HADDS), first reported in 2017, is one type of global development delay. The aim of the present study wa...
Autores principales: | Huang, Yanru, Mei, Libin, Wang, Yangdan, Ye, Huiming, Ma, Xiaomin, Zhang, Jian, Cai, Meijiao, Li, Ping, Ge, Yunsheng, Zhou, Yulin |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8339956/ https://www.ncbi.nlm.nih.gov/pubmed/34367240 http://dx.doi.org/10.3389/fgene.2021.676832 |
Ejemplares similares
-
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism
por: Tanaka, Akemi J., et al.
Publicado: (2017) -
A Case of Ophthalmoplegia, Hypotonia, and Developmental Delay in the Setting of Corpus Callosum Hypoplasia
por: Kim, Erica Y, et al.
Publicado: (2022) -
De novo mutations in PURA are associated with hypotonia and developmental delay
por: Tanaka, Akemi J., et al.
Publicado: (2015) -
Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia
por: Zhang, Lily, et al.
Publicado: (2020) -
Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1
por: Xiao, Shi-qi, et al.
Publicado: (2020)