Informação

SMC1A


SMC1A is responsible for producing and maintaining the core component of the cohesin complex ring. Changes in SMC1A have been found in approximately 5% of individuals with CdLS.

Many individuals with changes in SMC1A usually display a non-classic phenotype and have fuller eyebrows, less shortening of the nasal bridge and a rounder face compared to individuals with changes in NIPBL.


                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                              

Encontrar outras páginas que partilhem o mesmo tópico que esta página O que é a Síndrome de Cornelia de Lange (SCdL)?2

                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                              

tópico que contém este tópico
Moleculair diagnostic criteria
'
Informação

  

Sobre o conteúdo do sítio web

Toda a informação contida neste WebSite é apenas para fins educativos. O local para obter aconselhamento médico específico, diagnósticos e tratamento é o seu médico. A utilização deste site é estritamente por sua conta e risco. Se encontrar algo que considere necessário corrigir ou esclarecer, por favor informe-nos em: 

Envie um e-mail: info@cdlsWorld.org