Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions or EHMT1 mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She e...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Vargiami, Euthymia, Ververi, Athina, Al-Mutawa, Hamda, Gioula, Georgia, Gerou, Spyridon, Rouvalis, Fotios, Kambouris, Marios, Zafeiriou, Dimitrios I.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4867054/
https://ncbi.nlm.nih.gov/pubmed/27239352
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/3056053
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados