Cargando…
6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype
INTRODUCTION: Hypoplastic left heart syndrome (HLHS) is a rare but devastating congenital heart defect (CHD) accounting for 25% of all infant deaths due to a CHD. The etiology of HLHS remains elusive, but there is increasing evidence to support a genetic cause for HLHS; in particular, this syndrome...
Autores principales: | Cheng, Andrew, Neufeld-Kaiser, Whitney, Byers, Peter H., Liu, Yajuan J. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7077097/ https://www.ncbi.nlm.nih.gov/pubmed/32183715 http://dx.doi.org/10.1186/s12872-020-01404-5 |
Ejemplares similares
-
6q25.1-q25.3 Microdeletion in a Chinese Girl
por: Zhong, Mian-Ling, et al.
Publicado: (2021) -
Expanding the phenotype of
TAB2
variants and literature review
por: Woods, Emily, et al.
Publicado: (2022) -
Hypoplastic left heart syndrome
por: Connor, Jean Anne, et al.
Publicado: (2007) -
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
por: Ballif, Blake C, et al.
Publicado: (2008) -
Which Phenotypes Should We Include in the Hypoplastic Left Heart Syndrome?
por: Anderson, Robert H., et al.
Publicado: (2023)