Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

BACKGROUND: KBG syndrome, a rare autosomal disorder characterised by distinctive craniofacial and skeletal features and developmental delay, is caused by haploinsufficiency of the ANKRD11 gene. RESULTS: Here we describe two siblings with multiple symptoms characteristic of KBG and their mother with...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Crippa, Milena, Rusconi, Daniela, Castronovo, Chiara, Bestetti, Ilaria, Russo, Silvia, Cereda, Anna, Selicorni, Angelo, Larizza, Lidia, Finelli, Palma
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4383199/
https://ncbi.nlm.nih.gov/pubmed/25838844
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0126-7
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados