An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defect...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Patel, Ronak M., Liu, David, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Lu, James T., Sutton, V. Reid, Fernbach, Susan D., Azamian, Mahshid, White, Lisa, Edmond, Jane C., Paysse, Evelyn A., Belmont, John W., Muzny, Donna, Lupski, James R., Gibbs, Richard A., Lewis, Richard Alan, Lee, Brendan H., Lalani, Seema R., Campeau, Philippe M.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2017
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5334472/
https://ncbi.nlm.nih.gov/pubmed/28299356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a000984
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados