Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis

Chromosome 6q duplications have been documented repeatedly, allowing the delineation of a “6q duplication syndrome”, characterized by hypertelorism, downslanting palpebral fissures, tented upper lip, short neck, severe mental and growth retardation, and joint contractures. Most reported cases result...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Tabet, Anne-Claude, Aboura, Azzedine, Gérard, Marion, Pilorge, Marion, Dupont, Céline, Gadisseux, Jean-François, Hervy, Nadège, Pipiras, Eva, Delahaye, Andrée, Kanafani, Samia, Verloes, Alain, Benzacken, Brigitte, Betancur, Catalina
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley-Blackwell 2010
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2962443/
https://ncbi.nlm.nih.gov/pubmed/20583184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33433
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados